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1. Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

Author

Werren, Elizabeth A., Peirent, Emily R., Jantti, Henna, Guxholli, Alba, Srivastava, Kinshuk Raj, Orenstein, Naama, Narayanan, Vinodh, Wiszniewski, Wojciech, Dawidziuk, Mateusz, Gawlinski, Pawel, Umair, Muhammad, Khan, Amjad, Khan, Shahid Niaz, Geneviève, David, Lehalle, Daphné, van Gassen, K. L. I., Giltay, Jacques C., Oegema, Renske, van Jaarsveld, Richard H., Rafiullah, Rafiullah, Rappold, Gudrun A., Rabin, Rachel, Pappas, John G., Wheeler, Marsha M., Bamshad, Michael J., Tsan, Yao-Chang, Johnson, Matthew B., Keegan, Catherine E., Srivastava, Anshika, and Bielas, Stephanie L.

Published
2024
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3. De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

Author

Nieh, Sahar Esmaeeli, Madou, Maura RZ, Sirajuddin, Minhajuddin, Fregeau, Brieana, McKnight, Dianalee, Lexa, Katrina, Strober, Jonathan, Spaeth, Christine, Hallinan, Barbara E, Smaoui, Nizar, Pappas, John G, Burrow, Thomas A, McDonald, Marie T, Latibashvili, Mariam, Leshinsky-Silver, Esther, Lev, Dorit, Blumkin, Luba, Vale, Ronald D, Barkovich, Anthony James, and Sherr, Elliott H

Subjects
Biomedical and Clinical Sciences, Neurosciences, Rare Diseases, Neurodegenerative, Genetics, Clinical Research, Pediatric, Intellectual and Developmental Disabilities (IDD), Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Clinical Sciences, Clinical and health psychology
Abstract

ObjectiveTo determine the cause and course of a novel syndrome with progressive encephalopathy and brain atrophy in children.MethodsClinical whole-exome sequencing was performed for global developmental delay and intellectual disability; some patients also had spastic paraparesis and evidence of clinical regression. Six patients were identified with de novo missense mutations in the kinesin gene KIF1A. The predicted functional disruption of these mutations was assessed in silico to compare the calculated conformational flexibility and estimated efficiency of ATP binding to kinesin motor domains of wild-type (WT) versus mutant alleles. Additionally, an in vitro microtubule gliding assay was performed to assess the effects of de novo dominant, inherited recessive, and polymorphic variants on KIF1A motor function.ResultsAll six subjects had severe developmental delay, hypotonia, and varying degrees of hyperreflexia and spastic paraparesis. Microcephaly, cortical visual impairment, optic neuropathy, peripheral neuropathy, ataxia, epilepsy, and movement disorders were also observed. All six patients had a degenerative neurologic course with progressive cerebral and cerebellar atrophy seen on sequential magnetic resonance imaging scans. Computational modeling of mutant protein structures when compared to WT kinesin showed substantial differences in conformational flexibility and ATP-binding efficiency. The de novo KIF1A mutants were nonmotile in the microtubule gliding assay.InterpretationDe novo mutations in KIF1A cause a degenerative neurologic syndrome with brain atrophy. Computational and in vitro assays differentiate the severity of dominant de novo heterozygous versus inherited recessive KIF1A mutations. The profound effect de novo mutations have on axonal transport is likely related to the cause of progressive neurologic impairment in these patients.

Published
2015

4. De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.

Author

Esmaeeli Nieh, Sahar, Madou, Maura RZ, Sirajuddin, Minhajuddin, Fregeau, Brieana, McKnight, Dianalee, Lexa, Katrina, Strober, Jonathan, Spaeth, Christine, Hallinan, Barbara E, Smaoui, Nizar, Pappas, John G, Burrow, Thomas A, McDonald, Marie T, Latibashvili, Mariam, Leshinsky-Silver, Esther, Lev, Dorit, Blumkin, Luba, Vale, Ronald D, Barkovich, Anthony James, and Sherr, Elliott H

Subjects
Genetics, Brain Disorders, Pediatric, Intellectual and Developmental Disabilities, Neurosciences, Clinical Research, Rare Diseases, Neurodegenerative, 2.1 Biological and endogenous factors, Neurological, Clinical Sciences
Abstract

ObjectiveTo determine the cause and course of a novel syndrome with progressive encephalopathy and brain atrophy in children.MethodsClinical whole-exome sequencing was performed for global developmental delay and intellectual disability; some patients also had spastic paraparesis and evidence of clinical regression. Six patients were identified with de novo missense mutations in the kinesin gene KIF1A. The predicted functional disruption of these mutations was assessed in silico to compare the calculated conformational flexibility and estimated efficiency of ATP binding to kinesin motor domains of wild-type (WT) versus mutant alleles. Additionally, an in vitro microtubule gliding assay was performed to assess the effects of de novo dominant, inherited recessive, and polymorphic variants on KIF1A motor function.ResultsAll six subjects had severe developmental delay, hypotonia, and varying degrees of hyperreflexia and spastic paraparesis. Microcephaly, cortical visual impairment, optic neuropathy, peripheral neuropathy, ataxia, epilepsy, and movement disorders were also observed. All six patients had a degenerative neurologic course with progressive cerebral and cerebellar atrophy seen on sequential magnetic resonance imaging scans. Computational modeling of mutant protein structures when compared to WT kinesin showed substantial differences in conformational flexibility and ATP-binding efficiency. The de novo KIF1A mutants were nonmotile in the microtubule gliding assay.InterpretationDe novo mutations in KIF1A cause a degenerative neurologic syndrome with brain atrophy. Computational and in vitro assays differentiate the severity of dominant de novo heterozygous versus inherited recessive KIF1A mutations. The profound effect de novo mutations have on axonal transport is likely related to the cause of progressive neurologic impairment in these patients.

Published
2015

5. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Author

Kaiser, Frank J, Ansari, Morad, Braunholz, Diana, Concepción Gil-Rodríguez, María, Decroos, Christophe, Wilde, Jonathan J, Fincher, Christopher T, Kaur, Maninder, Bando, Masashige, Amor, David J, Atwal, Paldeep S, Bahlo, Melanie, Bowman, Christine M, Bradley, Jacquelyn J, Brunner, Han G, Clark, Dinah, Del Campo, Miguel, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A, Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C, Francey, Lauren J, Gehlken, Ulrike, Guillén-Navarro, Encarna, Gyftodimou, Yolanda, Hall, Bryan D, Hennekam, Raoul, Hudgins, Louanne, Hullings, Melanie, Hunter, Jennifer M, Yntema, Helger, Innes, A Micheil, Kline, Antonie D, Krumina, Zita, Lee, Hane, Leppig, Kathleen, Lynch, Sally Ann, Mallozzi, Mark B, Mannini, Linda, McKee, Shane, Mehta, Sarju G, Micule, Ieva, Care4Rare Canada Consortium, Mohammed, Shehla, Moran, Ellen, Mortier, Geert R, Moser, Joe-Ann S, Noon, Sarah E, Nozaki, Naohito, Nunes, Luis, Pappas, John G, Penney, Lynette S, Pérez-Aytés, Antonio, Petersen, Michael B, Puisac, Beatriz, Revencu, Nicole, Roeder, Elizabeth, Saitta, Sulagna, Scheuerle, Angela E, Schindeler, Karen L, Siu, Victoria M, Stark, Zornitza, Strom, Samuel P, Thiese, Heidi, Vater, Inga, Willems, Patrick, Williamson, Kathleen, Wilson, Louise C, University of Washington Center for Mendelian Genomics, Hakonarson, Hakon, Quintero-Rivera, Fabiola, Wierzba, Jolanta, Musio, Antonio, Gillessen-Kaesbach, Gabriele, Ramos, Feliciano J, Jackson, Laird G, Shirahige, Katsuhiko, Pié, Juan, Christianson, David W, Krantz, Ian D, Fitzpatrick, David R, and Deardorff, Matthew A

Subjects
Care4Rare Canada Consortium, University of Washington Center for Mendelian Genomics, Humans, Hypertelorism, De Lange Syndrome, Eye Abnormalities, Histone Deacetylases, Repressor Proteins, Cohort Studies, Sequence Alignment, Amino Acid Sequence, Phenotype, Mutation, Missense, Molecular Sequence Data, Child, Child, Preschool, Infant, Female, Male, Genes, X-Linked, Cranial Fontanelles, Genetics, Rare Diseases, Dental/Oral and Craniofacial Disease, Intellectual and Developmental Disabilities (IDD), Pediatric, Brain Disorders, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, Aetiology, Congenital, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease. Mutations in NIPBL, encoding a cohesin regulatory protein, account for >80% of cases with typical facies. Mutations in the core cohesin complex proteins, encoded by the SMC1A, SMC3 and RAD21 genes, together account for ∼5% of subjects, often with atypical CdLS features. Recently, we identified mutations in the X-linked gene HDAC8 as the cause of a small number of CdLS cases. Here, we report a cohort of 38 individuals with an emerging spectrum of features caused by HDAC8 mutations. For several individuals, the diagnosis of CdLS was not considered prior to genomic testing. Most mutations identified are missense and de novo. Many cases are heterozygous females, each with marked skewing of X-inactivation in peripheral blood DNA. We also identified eight hemizygous males who are more severely affected. The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of the eyelids, a broader nose and dental anomalies, which may be useful discriminating features. HDAC8 encodes the lysine deacetylase for the cohesin subunit SMC3 and analysis of the functional consequences of the missense mutations indicates that all cause a loss of enzymatic function. These data demonstrate that loss-of-function mutations in HDAC8 cause a range of overlapping human developmental phenotypes, including a phenotypically distinct subgroup of CdLS.

Published
2014

6. When University Faculty Retire: A Study of the Transition Process.

Author

Pappas, John G. and Goodman, Jane

Abstract

This study examined the retirement transitions of college faculty based on the Schlossberg (1984) model, which suggests that successful coping depends on an evaluation of the retiree's unique situation, the qualities of the individual, the support available, and the strategies employed. A total of 55 emeritus faculty from the College of Education at Eastern Michigan University completed a mailed survey questionnaire based on the Schlossberg model. The results support the conclusion that faculty are satisfied with retirement. No one aspect dominated the respondents' decision to retire, but leisure and travel plans, personal motivation, and freedom from routine were the most common responses. Ninety-one percent of the retirees felt both that the decision to retire was in their control and that the timing of their retirement was good. An unexpected finding was that 89 percent of retirees perceived an increase or no change in their feelings of "mattering" to others. (MDM)

Published
1997

7. Client Perceptions of Counselor Effectiveness: Do Gender and Sex-Role Orientation Make a Difference?

Author

Ametrano, Irene Mass and Pappas, John G.

Abstract

This study assessed the influence of gender and sex-role orientation on counselor effectiveness. Participants (56 female, 24 male) consisted of advanced level Master's degree counselor trainees and their clients. The counselors' sex orientation was based on their responses on the Personal Attributes Questionnaire. Sex orientation was divided into four categories: androgynous (n=27), masculine (n=5), feminine (n=26), or undifferentiated (n=7). Client data included descriptive information, results from the Counselor Rating Form-Short Version (CRF-S), and other measures. Results suggest that sex-role orientation alone and gender alone did not adequately account for differences in how clients perceived their counselors. However, when sex-role orientation was considered with gender, several differences and some relationships emerged. Undifferentiated male counselors were less likely to be referred to their clients' friends than were androgynous counselors (male and female), feminine female counselors, and undifferentiated female counselors. Counselor sex-role orientation and gender, however, made little difference in clients' perceptions of counselor attractiveness, expertness, and trustworthiness, in feelings of being helped by the counselor, or in willingness to return in the future. (Contains 23 references.) (RJM)

Published
1995

11. De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

Author

Dias, Kerith-Rae, primary, Carlston, Colleen M., additional, Blok, Laura E.R., additional, De Hayr, Lachlan, additional, Nawaz, Urwah, additional, Evans, Carey-Anne, additional, Bayrak-Toydemir, Pinar, additional, Htun, Stephanie, additional, Zhu, Ying, additional, Ma, Alan, additional, Lynch, Sally Ann, additional, Moorwood, Catherine, additional, Stals, Karen, additional, Ellard, Sian, additional, Bainbridge, Matthew N., additional, Friedman, Jennifer, additional, Pappas, John G., additional, Rabin, Rachel, additional, Nowak, Catherine B., additional, Douglas, Jessica, additional, Wilson, Theodore E., additional, Guillen Sacoto, Maria J., additional, Mullegama, Sureni V., additional, Palculict, Timothy Blake, additional, Kirk, Edwin P., additional, Pinner, Jason R., additional, Edwards, Matthew, additional, Montanari, Francesca, additional, Graziano, Claudio, additional, Pippucci, Tommaso, additional, Dingmann, Bri, additional, Glass, Ian, additional, Mefford, Heather C., additional, Shimoji, Takeyoshi, additional, Suzuki, Toshimitsu, additional, Yamakawa, Kazuhiro, additional, Streff, Haley, additional, Schaaf, Christian P., additional, Slavotinek, Anne M., additional, Voineagu, Irina, additional, Carey, John C., additional, Buckley, Michael F., additional, Schenck, Annette, additional, Harvey, Robert J., additional, and Roscioli, Tony, additional

Published
2022
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12. Applying the Schlossberg 4S Transition Model to Retired University Faculty: Does It Fit?

Author

Goodman, Jane and Pappas, John G.

Abstract

The authors surveyed university faculty to investigate whether the Schlossberg 4S Transition Model was a useful way to look at retirement adjustment. Participants were asked questions regarding aspects of situation, self, support, and strategies before and after retirement. Results are described in relation to overall retirement satisfaction. (Contains 14 references and 5 tables.) (Author)

Published
2000

13. Client Perceptions of Counselors-In-Training: The Effects of Sex and Gender Role Orientation.

Author

Ametrano, Irene Mass and Pappas, John G.

Abstract

Effects of the sex of the counselor and of gender role orientation on client ratings of counselors-in-training were examined in a group (N=65) of graduate counselor trainees. An interaction between sex and gender role orientation was found for differences in clients' willingness to refer a friend to the counselor. Implications for training and research are discussed. (Author/KW)

Published
1996

15. Author response for 'PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy'

Author

null Panneerselvam, Sugi, null Wang, Julia, null Zhu, Wenmiao, null Dai, Hongzheng, null Pappas, John G., null Rabin, Rachel, null Low, Karen J., null Rosenfeld, Jill A., null Emrick, Lisa, null Xiao, Rui, null Xia, Fan, null Yang, Yaping, null Eng, Christine M., null Anderson, Anne, null Chau, Vann, null Soler-Alfonso, Claudia, null Streff, Haley, null Lalani, Seema R., null Mercimek-Andrews, Saadet, and null Bi, Weimin

Published
2021

16. An Evaluation of the Oakland Academy Model: Do Counselor Academies Really Work?

Author

Waidley, John W. and Pappas, John G.

Abstract

Presents evaluation of countywide professional development programs for school counselors. Surveyed program participants (n=128) and counselor supervisors (n=75). Results indicated the programs had positive effects on counselor who approved of all of the components of the program; counselors' supervisors described changes brought about by their counselors. (ABL)

Published
1992

17. Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination

Author

Damseh, Nadirah, Simonin, Alexandre, Jalas, Chaim, Picoraro, Joseph A, Shaag, Avraham, Cho, Megan T, Yaacov, Barak, Neidich, Julie, Al-Ashhab, Motee, Juusola, Jane, Bale, Sherri, Telegrafi, Aida, Retterer, Kyle, Pappas, John G, Moran, Ellen, Cappell, Joshua, Anyane Yeboa, Kwame, Abu-Libdeh, Bassam, Hediger, Matthias A, Chung, Wendy K, Elpeleg, Orly, and Edvardson, Simon

Published
2015
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18. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

Author

Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D, Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic-Vuksanovic, Dusica, Baker, Laura, Basel, Donald G, Bengala, Mario, Bennett, James T, Chambers, Chelsea, Clarkson, Lola K, Clementi, Maurizio, Cortés, Fanny M, Cunningham, Mitch, D'Agostino, M Daniela, Delatycki, Martin B, Digilio, Maria C, Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary-Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S, Griffis, Cristin, Gripp, Karen W, Gupta, Punita, Haan, Eric, Hachen, Rachel K, Haygarth, Tamara L, Hernández-Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J, Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly-Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R, Lewis, Andrea M, Liebelt, Jan, Lichty, Angie, Listernick, Robert H, Lyons, Michael J, Maystadt, Isabelle, Ojeda, Mayra Martinez, McDougall, Carey, McGregor, Lesley K, Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J M, Ortenberg, June, Panzer, Karin, Pappas, John G, Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K, Pond, Dinel A, Powell, Cynthia M, Rogers, Caleb, Shahar, Noa Ruhrman, Rutledge, S Lane, Saletti, Veronica, Sandaradura, Sarah A, Santoro, Claudia, Schatz, Ulrich A, Schreiber, Allison, Scott, Daryl A, Sellars, Elizabeth A, Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M, Smith, Rosemarie, Spalice, Alberto, Stockton, David W, Streff, Haley, Theos, Amy, Tomlinson, Gail E, Tran, Grace, Trapane, Pamela L, Trevisson, Eva, Ullrich, Nicole J, Van den Ende, Jenneke, Schrier Vergano, Samantha A, Wallace, Stephanie E, Wangler, Michael F, Weaver, David D, Yohay, Kaleb H, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen B M, Eoli, Marica, Martin, Yolanda, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M, Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D, Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic-Vuksanovic, Dusica, Baker, Laura, Basel, Donald G, Bengala, Mario, Bennett, James T, Chambers, Chelsea, Clarkson, Lola K, Clementi, Maurizio, Cortés, Fanny M, Cunningham, Mitch, D'Agostino, M Daniela, Delatycki, Martin B, Digilio, Maria C, Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary-Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S, Griffis, Cristin, Gripp, Karen W, Gupta, Punita, Haan, Eric, Hachen, Rachel K, Haygarth, Tamara L, Hernández-Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J, Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly-Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R, Lewis, Andrea M, Liebelt, Jan, Lichty, Angie, Listernick, Robert H, Lyons, Michael J, Maystadt, Isabelle, Ojeda, Mayra Martinez, Mcdougall, Carey, Mcgregor, Lesley K, Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J M, Ortenberg, June, Panzer, Karin, Pappas, John G, Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K, Pond, Dinel A, Powell, Cynthia M, Rogers, Caleb, Shahar, Noa Ruhrman, Rutledge, S Lane, Saletti, Veronica, Sandaradura, Sarah A, Santoro, Claudia, Schatz, Ulrich A, Schreiber, Allison, Scott, Daryl A, Sellars, Elizabeth A, Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M, Smith, Rosemarie, Spalice, Alberto, Stockton, David W, Streff, Haley, Theos, Amy, Tomlinson, Gail E, Tran, Grace, Trapane, Pamela L, Trevisson, Eva, Ullrich, Nicole J, Van den Ende, Jenneke, Schrier Vergano, Samantha A, Wallace, Stephanie E, Wangler, Michael F, Weaver, David D, Yohay, Kaleb H, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen B M, Eoli, Marica, Martin, Yolanda, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, and Messiaen, Ludwine M

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, Heterozygote, VONRECKLINGHAUSEN NEUROFIBROMATOSIS, INDEPENDENT NF1, Neurofibromatosis 1, NF1, genotype-phenotype correlation, p.Arg1276, p.Lys1423, p.Met1149, NOONAN-SYNDROME, Mutation, Missense, PULMONARY STENOSIS, AU-LAIT SPOTS, Medicine and Health Sciences, Humans, Genetic Predisposition to Disease, Met1149, Alleles, Genetic Association Studies, Research Articles, Arg1276, Genetics & Heredity, SPINAL NEUROFIBROMATOSIS, Science & Technology, Neurofibromin 1, MUTATIONS, OPTIC PATHWAY TUMORS, NATURAL-HISTORY, genotype–phenotype correlation, SOUTH EAST WALES, nervous system diseases, Lys1423, Cross-Sectional Studies, Phenotype, Amino Acid Substitution, Human medicine, Life Sciences & Biomedicine, Research Article
Abstract

We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149, p.Arg1276, or p.Lys1423, representing three nontruncating NF1 hotspots in the University of Alabama at Birmingham (UAB) cohort, together identified in 1.8% of unrelated NF1 individuals. About 25% (95% confidence interval: 20.5-31.2%) of individuals heterozygous for a pathogenic NF1 p.Met1149, p.Arg1276, or p.Lys1423 missense variant had a Noonan-like phenotype, which is significantly more compared with the "classic" NF1-affected cohorts (all p

Published
2019

20. De Novo ZMYND8variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

Author

Dias, Kerith-Rae, Carlston, Colleen M., Blok, Laura E.R., De Hayr, Lachlan, Nawaz, Urwah, Evans, Carey-Anne, Bayrak-Toydemir, Pinar, Htun, Stephanie, Zhu, Ying, Ma, Alan, Lynch, Sally Ann, Moorwood, Catherine, Stals, Karen, Ellard, Sian, Bainbridge, Matthew N., Friedman, Jennifer, Pappas, John G., Rabin, Rachel, Nowak, Catherine B., Douglas, Jessica, Wilson, Theodore E., Guillen Sacoto, Maria J., Mullegama, Sureni V., Palculict, Timothy Blake, Kirk, Edwin P., Pinner, Jason R., Edwards, Matthew, Montanari, Francesca, Graziano, Claudio, Pippucci, Tommaso, Dingmann, Bri, Glass, Ian, Mefford, Heather C., Shimoji, Takeyoshi, Suzuki, Toshimitsu, Yamakawa, Kazuhiro, Streff, Haley, Schaaf, Christian P., Slavotinek, Anne M., Voineagu, Irina, Carey, John C., Buckley, Michael F., Schenck, Annette, Harvey, Robert J., and Roscioli, Tony

Abstract

ZMYND8encodes a multidomain protein that serves as a central interactive hub for coordinating critical roles in transcription regulation, chromatin remodeling, regulation of super-enhancers, DNA damage response and tumor suppression. We delineate a novel neurocognitive disorder caused by variants in the ZMYND8gene.

Published
2022
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22. De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation.

Author

Halvorsen, Matthew, Gould, Laura, Xiaohan Wang, Grante, Gariel, Moya, Raquel, Rabin, Rachel, Ackerman, Michael J., Testeri, David J., Lin, Peter T., Pappas, John G., Maurano, Matthew T., Goldstein, David B., Tsien, Richard W., and Devinsky, Orrin

Subjects
SUDDEN death, CHILD mortality, ARRHYTHMIA, CALCIUM channels, GENETIC mutation
Abstract

Sudden unexplained death in childhood (SUDC) is an understudied problem. Whole-exome sequence data from 124 "trios" (decedent child, living parents) was used to test for excessive de novo mutations (DNMs) in genes involved in cardiac arrhythmias, epilepsy, and other disorders. Among decedents, nonsynonymous DNMs were enriched in genes associated with cardiac and seizure disorders relative to controls (odds ratio = 9.76, P = 2.15 × 1024). We also found evidence for overtransmission of loss-of-function (LoF) or previously reported pathogenic variants in these same genes from heterozygous carrier parents (11 of 14 transmitted, P = 0.03). We identified a total of 11 SUDC proband genotypes (7 de novo, 1 transmitted parental mosaic, 2 transmitted parental heterozygous, and 1 compound heterozygous) as pathogenic and likely contributory to death, a genetic finding in 8.9% of our cohort. Two genes had recurrent missense DNMs, RYR2 and CACNA1C. Both RYR2 mutations are pathogenic (P = 1.7 × 1027) and were previously studied in mouse models. Both CACNA1C mutations lie within a 104-nt exon (P = 1.0 × 1027) and result in slowed L-type calcium channel inactivation and lower current density. In total, six pathogenic DNMs can alter calcium-related regulation of cardiomyocyte and neuronal excitability at a submembrane junction, suggesting a pathway conferring susceptibility to sudden death. There was a trend for excess LoF mutations in LoF intolerant genes, where =1 nonhealthy sample in denovo-db has a similar variant (odds ratio = 6.73, P = 0.02); additional uncharacterized genetic causes of sudden death in children might be discovered with larger cohorts. [ABSTRACT FROM AUTHOR]

Published
2021
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23. Hyponatremic Seizures and Adrenal Hypoplasia Congenita in a Neonate with Congenital Diaphragmatic Hernia

Author

Verma, Sourabh, Purrier, Sheryl, Breidbart, Emily, Pappas, John G., Mally, Pradeep V., and Randis, Tara M.

Subjects
Article Subject
Abstract

Congenital diaphragmatic hernia (CDH) in neonates may occur as an isolated finding, in association with other anomalies, or as part of a genetic syndrome. We report the first case of an infant with CDH who presented with hyponatremic seizures due to adrenal hypoplasia congenita (AHC). The patient underwent repair of CDH defect. After an uncomplicated postoperative course while on discharge planning, he developed a seizure episode associated with severe hyponatremia and hyperkalemia. Extensive diagnostic workup revealed an NR0B1 gene variant confirming the diagnosis of X-linked AHC. The patient was eventually discharged home on hydrocortisone, fludrocortisone, and salt supplements. There are a few case reports of adrenal insufficiency in neonates with CDH, manifesting with symptoms before and immediately after reparative surgery. Clinical presentation of our patient was unique in manifesting as neonatal seizure secondary to severe hyponatremia after a stable postoperative phase. The patient’s electrolytes and hemodynamic status remained stable before, during, and after surgery for CDH. This case underlines the importance of taking detailed family history and continued vigilance for signs and symptoms of adrenal insufficiency in infants with repaired CDH by pediatricians and intensivists.

Published
2019
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24. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

Author

Bicknell, Louise S, Farrington-Rock, Claire, Shafeghati, Yousef, Rump, Patrick, Alanay, Yasemin, Alembik, Yves, Al-Madani, Navid, Firth, Helen, Karimi-Nejad, Mohammad Hassan, Kim, Chong Ae, Leask, Kathryn, Maisenbacher, Melissa, Moran, Ellen, Pappas, John G, Prontera, Paolo, de Ravel, Thomy, Fryns, Jean-Pierre, Sweeney, Elizabeth, Fryer, Alan, Unger, Sheila, Wilson, L C, Lachman, Ralph S, Rimoin, David L, Cohn, Daniel H, Krakow, Deborah, and Robertson, Stephen P

Published
2007

25. DAX1 mutations map to putative structural domains in a deduced three-dimensional model

Author

Zhang, Yao-Hua, Guo, Weiwen, Wagner, Richard L., Huang, Bing-Ling, McCabe, Linda, Vilain, Eric, Burris, Thomas P., Anyane-Yeboa, Kwame, Burghes, Arthur H.M., Chitayat, David, Chudley, Albert E., Genel, Myron, Gertner, Joseph M., Klingensmith, Georgeanna J., Levine, Steven N., Nakamoto, Jon, New, Maria I., Pagon, Roberta A., Pappas, John G., Quigley, Charmian A., Rosenthal, Ira M., Baxter, John D., Fletterick, Robert J., and McCabe, Edward R.B.

Subjects
Genetic disorders -- Research, Chromosome mapping -- Usage, Proteins -- Receptors, Adrenal gland diseases -- Genetic aspects, Puberty -- Genetic aspects, Hypogonadism -- Genetic aspects, Biological sciences
Abstract

Most genetic changes in DAX1 (ital) are frameshift or nonsense mutations. It is speculated that the missense mutations and codon deletion give insight into the structure and function of DAX1. To locate single-amino-acid changes in a DAX1 structural model and to identify DAX1 (ital) mutations in a series of families and determine the kinds of mutations that result in adrenal hypoplasia congenita (AHC), 17 families with AHC were studied. The DAX1 protein is an orphan nuclear hormone receptor based on sequence similarity in the putative ligand-binding domain (LBD). DAX1 (ital) mutations map to putative structural domains in a deduced three-dimensional model.

Published
1998

26. PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy.

Author

Panneerselvam, Sugi, Wang, Julia, Zhu, Wenmiao, Dai, Hongzheng, Pappas, John G., Rabin, Rachel, Low, Karen J., Rosenfeld, Jill A., Emrick, Lisa, Xiao, Rui, Xia, Fan, Yang, Yaping, Eng, Christine M., Anderson, Anne, Chau, Vann, Soler‐Alfonso, Claudia, Streff, Haley, Lalani, Seema R., Mercimek‐Andrews, Saadet, and Bi, Weimin

Subjects
EPILEPSY, MUTANT proteins, CATALYTIC domains
Abstract

PPP3CA encodes the catalytic subunit of calcineurin, a calcium‐calmodulin‐regulated serine–threonine phosphatase. Loss‐of‐function (LoF) variants in the catalytic domain have been associated with epilepsy, while gain‐of‐function (GoF) variants in the auto‐inhibitory domain cause multiple congenital abnormalities. We herein report five new patients with de novo PPP3CA variants. Interestingly, the two frameshift variants in this study and the six truncating variants reported previously are all located within a 26‐amino acid region in the regulatory domain (RD). Patients with a truncating variant had more severe earlier onset seizures compared to patients with a LoF missense variant, while autism spectrum disorder was a more frequent feature in the latter. Expression studies of a truncating variant showed apparent RNA expression from the mutant allele, but no detectable mutant protein. Our data suggest that PPP3CA truncating variants clustered in the RD, causing more severe early‐onset refractory epilepsy and representing a type of variants distinct from LoF or GoF missense variants. [ABSTRACT FROM AUTHOR]

Published
2021
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27. Clinical spectrum of individuals with pathogenicN F1missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Author

Koczkowska, Magdalena, primary, Callens, Tom, additional, Chen, Yunjia, additional, Gomes, Alicia, additional, Hicks, Alesha D., additional, Sharp, Angela, additional, Johns, Eric, additional, Uhas, Kim Armfield, additional, Armstrong, Linlea, additional, Bosanko, Katherine Armstrong, additional, Babovic‐Vuksanovic, Dusica, additional, Baker, Laura, additional, Basel, Donald G., additional, Bengala, Mario, additional, Bennett, James T., additional, Chambers, Chelsea, additional, Clarkson, Lola K., additional, Clementi, Maurizio, additional, Cortés, Fanny M., additional, Cunningham, Mitch, additional, D'Agostino, M. Daniela, additional, Delatycki, Martin B., additional, Digilio, Maria C., additional, Dosa, Laura, additional, Esposito, Silvia, additional, Fox, Stephanie, additional, Freckmann, Mary‐Louise, additional, Fauth, Christine, additional, Giugliano, Teresa, additional, Giustini, Sandra, additional, Goetsch, Allison, additional, Goldberg, Yael, additional, Greenwood, Robert S., additional, Griffis, Cristin, additional, Gripp, Karen W., additional, Gupta, Punita, additional, Haan, Eric, additional, Hachen, Rachel K., additional, Haygarth, Tamara L., additional, Hernández‐Chico, Concepción, additional, Hodge, Katelyn, additional, Hopkin, Robert J., additional, Hudgins, Louanne, additional, Janssens, Sandra, additional, Keller, Kory, additional, Kelly‐Mancuso, Geraldine, additional, Kochhar, Aaina, additional, Korf, Bruce R., additional, Lewis, Andrea M., additional, Liebelt, Jan, additional, Lichty, Angie, additional, Listernick, Robert H., additional, Lyons, Michael J., additional, Maystadt, Isabelle, additional, Martinez Ojeda, Mayra, additional, McDougall, Carey, additional, McGregor, Lesley K., additional, Melis, Daniela, additional, Mendelsohn, Nancy, additional, Nowaczyk, Malgorzata J.M., additional, Ortenberg, June, additional, Panzer, Karin, additional, Pappas, John G., additional, Pierpont, Mary Ella, additional, Piluso, Giulio, additional, Pinna, Valentina, additional, Pivnick, Eniko K., additional, Pond, Dinel A., additional, Powell, Cynthia M., additional, Rogers, Caleb, additional, Ruhrman Shahar, Noa, additional, Rutledge, S. Lane, additional, Saletti, Veronica, additional, Sandaradura, Sarah A., additional, Santoro, Claudia, additional, Schatz, Ulrich A., additional, Schreiber, Allison, additional, Scott, Daryl A., additional, Sellars, Elizabeth A., additional, Sheffer, Ruth, additional, Siqveland, Elizabeth, additional, Slopis, John M., additional, Smith, Rosemarie, additional, Spalice, Alberto, additional, Stockton, David W., additional, Streff, Haley, additional, Theos, Amy, additional, Tomlinson, Gail E., additional, Tran, Grace, additional, Trapane, Pamela L., additional, Trevisson, Eva, additional, Ullrich, Nicole J., additional, Van den Ende, Jenneke, additional, Schrier Vergano, Samantha A., additional, Wallace, Stephanie E., additional, Wangler, Michael F., additional, Weaver, David D., additional, Yohay, Kaleb H., additional, Zackai, Elaine, additional, Zonana, Jonathan, additional, Zurcher, Vickie, additional, Claes, Kathleen B. M., additional, Eoli, Marica, additional, Martin, Yolanda, additional, Wimmer, Katharina, additional, De Luca, Alessandro, additional, Legius, Eric, additional, and Messiaen, Ludwine M., additional

Published
2019
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28. In vivo epigenetic editing of sema6a promoter reverses impaired transcallosal connectivity caused by C11orf46/ARL14EP neurodevelopmental risk gene

Author

Peter, Cyril J., primary, Saito, Atsushi, additional, Hasegawa, Yuto, additional, Tanaka, Yuya, additional, Perez, Gabriel, additional, Alway, Emily, additional, Espeso-gil, Sergio, additional, Fayyad, Tariq, additional, Ratner, Chana, additional, Dincer, Aslihan, additional, Gupta, Achla, additional, Devi, Lakshmi, additional, Pappas, John G., additional, Lalonde, François M., additional, Butman, John A., additional, Han, Joan C., additional, Akbarian, Schahram, additional, and Kamiya, Atsushi, additional

Published
2018
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29. Career Guidance Strategies for Student Affairs Professionals.

Author

Eastern Michigan Univ., Ypsilanti. Dept. of Leadership and Counseling. and Pappas, John G.

Abstract

The need for career guidance and counseling services in post-secondary institutions is well-documented in the professional literature and recent research studies. Accordingly, this module is intended as a guide for instructors to use in conjunction with an existing introductory course in college student personnel/student affairs in higher education. It is designed to assist graduate students in examining their own career development and in assessing available career opportunities and resources. Through a structured self-analysis, it provides useful career information and materials, and involves students in career-related activities and experiences. There are five separate components with suggested activities, materials, and resources for each: (1) Self Assessment and Self Analysis; (2) Career Opportunities in Student Affairs; (3) Career Enhancing Experiences; (4) Life Planning and Direction; and (5) Placement Strategies for New Professionals. (TE)

Published
1988

30. Integrating Teacher and Counselor Education: The Process as the Lesson

Author

Thayer, Louis C. and Pappas, John G.

Abstract

This article explains an experimental project which integrated selected dimensions of the teacher and counselor education programs. The affective components of education and interpersonal functioning were the focus with the structure designed to emphasize experience more than explanation. The process was the lesson. (Author)

Published
1973

31. SMATO

Author

Pappas, John G.

Published
1995

34. A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

Author

Chao, Hsiao-Tuan, primary, Davids, Mariska, additional, Burke, Elizabeth, additional, Pappas, John G., additional, Rosenfeld, Jill A., additional, McCarty, Alexandra J., additional, Davis, Taylor, additional, Wolfe, Lynne, additional, Toro, Camilo, additional, Tifft, Cynthia, additional, Xia, Fan, additional, Stong, Nicholas, additional, Johnson, Travis K., additional, Warr, Coral G., additional, Yamamoto, Shinya, additional, Adams, David R., additional, Markello, Thomas C., additional, Gahl, William A., additional, Bellen, Hugo J., additional, Wangler, Michael F., additional, Malicdan, May Christine V., additional, Adams, Christopher J., additional, Alejandro, Mercedes E., additional, Allard, Patrick, additional, Ashley, Euan A., additional, Bacino, Carlos A., additional, Balasubramanyam, Ashok, additional, Barseghyan, Hayk, additional, Beggs, Alan H., additional, Bernstein, Jonathan A., additional, Bick, David P., additional, Birch, Camille L., additional, Boone, Braden E., additional, Briere, Lauren C., additional, Brown, Donna M., additional, Brush, Matthew, additional, Burrage, Lindsay C., additional, Chao, Katherine R., additional, Clark, Gary D., additional, Cogan, Joy D., additional, Cooper, Cynthia M., additional, Craigen, William J., additional, Dayal, Jyoti G., additional, Dell'Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dipple, Katrina M., additional, Donnell-Fink, Laurel A., additional, Dorrani, Naghmeh, additional, Dorset, Dan C., additional, Draper, David D., additional, Dries, Annika M., additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Fisher, Paul G., additional, Frisby, Trevor S., additional, Frost, Kate, additional, Gartner, Valerie, additional, Godfrey, Rena A., additional, Goheen, Mitchell, additional, Golas, Gretchen A., additional, Goldstein, David B., additional, Gordon, Mary “Gracie” G., additional, Gould, Sarah E., additional, Gourdine, Jean-Philippe F., additional, Graham, Brett H., additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Hackbarth, Mary E., additional, Haendel, Melissa, additional, Hamid, Rizwan, additional, Hanchard, Neil A., additional, Handley, Lori H., additional, Hardee, Isabel, additional, Herzog, Matthew R., additional, Holm, Ingrid A., additional, Howerton, Ellen M., additional, Jacob, Howard J., additional, Jain, Mahim, additional, Jiang, Yong-hui, additional, Johnston, Jean M., additional, Jones, Angela L., additional, Koehler, Alanna E., additional, Koeller, David M., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Krasnewich, Donna M., additional, Krieg, Elizabeth L., additional, Krier, Joel B., additional, Kyle, Jennifer E., additional, Lalani, Seema R., additional, Latham, Lea, additional, Latour, Yvonne L., additional, Lau, C. Christopher, additional, Lazar, Jozef, additional, Lee, Brendan H., additional, Lee, Hane, additional, Lee, Paul R., additional, Levy, Shawn E., additional, Levy, Denise J., additional, Lewis, Richard A., additional, Liebendorder, Adam P., additional, Lincoln, Sharyn A., additional, Loomis, Carson R., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mashid, Azamian S., additional, Mazur, Paul, additional, McConkie-Rosell, Allyn, additional, McCray, Alexa T., additional, Metz, Thomas O., additional, Might, Matthew, additional, Moretti, Paolo M., additional, Mulvihill, John J., additional, Murphy, Jennifer L., additional, Muzny, Donna M., additional, Nehrebecky, Michele E., additional, Nelson, Stan F., additional, Newberry, J. Scott, additional, Newman, John H., additional, Nicholas, Sarah K., additional, Novacic, Donna, additional, Orange, Jordan S., additional, Pallais, J. Carl, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Pena, Loren D.M., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Postlethwait, John H., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Ramoni, Rachel B., additional, Rodan, Lance H., additional, Sadozai, Sarah, additional, Schaffer, Katherine E., additional, Schoch, Kelly, additional, Schroeder, Molly C., additional, Scott, Daryl A., additional, Sharma, Prashant, additional, Shashi, Vandana, additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Soldatos, Ariane G., additional, Spillmann, Rebecca C., additional, Splinter, Kimberly, additional, Stoler, Joan M., additional, Strong, Kimberly A., additional, Sullivan, Jennifer A., additional, Sweetser, David A., additional, Thomas, Sara P., additional, Tift, Cynthia J., additional, Tolman, Nathanial J., additional, Tran, Alyssa A., additional, Valivullah, Zaheer M., additional, Vilain, Eric, additional, Waggott, Daryl M., additional, Wahl, Colleen E., additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Warburton, Mike, additional, Ward, Patricia A., additional, Waters, Katrina M., additional, Webb-Robertson, Bobbie-Jo M., additional, Weech, Alec A., additional, Westerfield, Monte, additional, Wheeler, Matt T., additional, Wise, Anastasia L., additional, Worthe, Lynne A., additional, Worthey, Elizabeth A., additional, Yang, Yaping, additional, Yu, Guoyun, additional, and Zornio, Patricia A., additional

Published
2017
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37. Applying the Schlossberg 4S Transition Model to Retired University Faculty: Does It Fit?

Author

Goodman, Jane and Pappas, John G.

Subjects
College teachers -- Appointments, resignations and dismissals, Universities and colleges -- United States, Retirement age -- Analysis, Psychology and mental health, Seniors, Appointments, resignations and dismissals, Analysis
Abstract

The authors surveyed university faculty to investigate whether the Schlossberg 4S Transition Model was a useful way to look at retirement adjustment. Participants were asked questions regarding aspects of situation, [...]

Published
2000

39. Mutations inSLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination

Author

Damseh, Nadirah, primary, Simonin, Alexandre, additional, Jalas, Chaim, additional, Picoraro, Joseph A, additional, Shaag, Avraham, additional, Cho, Megan T, additional, Yaacov, Barak, additional, Neidich, Julie, additional, Al-Ashhab, Motee, additional, Juusola, Jane, additional, Bale, Sherri, additional, Telegrafi, Aida, additional, Retterer, Kyle, additional, Pappas, John G, additional, Moran, Ellen, additional, Cappell, Joshua, additional, Anyane Yeboa, Kwame, additional, Abu-Libdeh, Bassam, additional, Hediger, Matthias A, additional, Chung, Wendy K, additional, Elpeleg, Orly, additional, and Edvardson, Simon, additional

Published
2015
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40. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Author

UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de malformations vasculaires congénitales, Kaiser, Frank J., Ansari, Morad, Braunholz, Diana, Gil-Rodríguez, María Concepción, Decroos, Christophe, Wilde, Jonathan J., Fincher, Christopher T., Kaur, Maninder, Bando, Masashige, Amor, David J., Atwal, P.S., Bahlo, Melanie, Bowman, Christine M., Bradley, Jacquelyn J., Brunner, Han G., Clark, Dinah, Campo, Miguel Del, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A., Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C., Francey, Lauren J., Gehlken, Ulrike, Guillén-Navarro, Encarna, Gyftodimou, Yolanda, Hall, Bryan D., Hennekam, Raoul, Hudgins, Louanne, Hullings, Melanie, Hunter, Jennifer M., Yntema, Helger, Innes, A. Micheil, Kline, Antonie D., Krumina, Zita, Lee, Hane, Leppig, Kathleen, Lynch, Sally Ann, Mallozzi, Mark B., Mannini, Linda, Mckee, Shane, Mehta, Sarju G., Micule, Ieva, Consortium, Care Rare Canada, Mohammed, Shehla, Moran, Ellen, Mortier, Geert R., Moser, Joe-Ann S., Noon, Sarah E., Nozaki, Naohito, Nunes, Luis, Pappas, John G., Penney, Lynette S., Pérez-Aytés, Antonio, Petersen, Michael B., Puisac, Beatriz, Revencu, Nicole, Roeder, Elizabeth, Saitta, Sulagna, Scheuerle, Angela E., Schindeler, Karen L., Siu, Victoria M., Stark, Zornitza, Strom, Samuel P., Thiese, Heidi, Vater, Inga, Willems, P., Williamson, Kathleen, Wilson, Louise C., Hakonarson, Hakon, Quintero-Rivera, Fabiola, Wierzba, Jolanta, Musio, Antonio, Gillessen-Kaesbach, Gabriele, Ramos, Feliciano J., Jackson, Laird G., Shirahige, Katsuhiko, Pié, Juan, Christianson, David W., Krantz, Ian D., Fitzpatrick, David R., Deardorff, Matthew A., UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de malformations vasculaires congénitales, Kaiser, Frank J., Ansari, Morad, Braunholz, Diana, Gil-Rodríguez, María Concepción, Decroos, Christophe, Wilde, Jonathan J., Fincher, Christopher T., Kaur, Maninder, Bando, Masashige, Amor, David J., Atwal, P.S., Bahlo, Melanie, Bowman, Christine M., Bradley, Jacquelyn J., Brunner, Han G., Clark, Dinah, Campo, Miguel Del, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A., Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C., Francey, Lauren J., Gehlken, Ulrike, Guillén-Navarro, Encarna, Gyftodimou, Yolanda, Hall, Bryan D., Hennekam, Raoul, Hudgins, Louanne, Hullings, Melanie, Hunter, Jennifer M., Yntema, Helger, Innes, A. Micheil, Kline, Antonie D., Krumina, Zita, Lee, Hane, Leppig, Kathleen, Lynch, Sally Ann, Mallozzi, Mark B., Mannini, Linda, Mckee, Shane, Mehta, Sarju G., Micule, Ieva, Consortium, Care Rare Canada, Mohammed, Shehla, Moran, Ellen, Mortier, Geert R., Moser, Joe-Ann S., Noon, Sarah E., Nozaki, Naohito, Nunes, Luis, Pappas, John G., Penney, Lynette S., Pérez-Aytés, Antonio, Petersen, Michael B., Puisac, Beatriz, Revencu, Nicole, Roeder, Elizabeth, Saitta, Sulagna, Scheuerle, Angela E., Schindeler, Karen L., Siu, Victoria M., Stark, Zornitza, Strom, Samuel P., Thiese, Heidi, Vater, Inga, Willems, P., Williamson, Kathleen, Wilson, Louise C., Hakonarson, Hakon, Quintero-Rivera, Fabiola, Wierzba, Jolanta, Musio, Antonio, Gillessen-Kaesbach, Gabriele, Ramos, Feliciano J., Jackson, Laird G., Shirahige, Katsuhiko, Pié, Juan, Christianson, David W., Krantz, Ian D., Fitzpatrick, David R., and Deardorff, Matthew A.

Abstract

Cornelia de Lange syndrome (CdLS) is amultisystemgenetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease. Mutations in NIPBL, encoding a cohesin regulatory protein, account for >80% of cases with typical facies. Mutations in the core cohesin complex proteins, encoded by the SMC1A, SMC3 and RAD21 genes, together account for ̃5% of subjects, often with atypical CdLS features. Recently, we identified mutations in the X-linked gene HDAC8 as the cause of a small number of CdLS cases. Here, we report a cohort of 38 individuals with an emerging spectrum of features caused by HDAC8 mutations. For several individuals, the diagnosis of CdLS was not considered prior to genomic testing. Most mutations identified are missense and de novo. Many cases are heterozygous females, each with marked skewing of X-inactivation in peripheral blood DNA.Wealso identified eight hemizygous males who are more severely affected. The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of the eyelids, a broader nose and dental anomalies, which may be useful discriminating features. HDAC8 encodes the lysine deacetylase for the cohesin subunit SMC3 and analysis of the functional consequences of the missense mutations indicates that all cause a loss of enzymatic function. These data demonstrate that loss-of-function mutations in HDAC8 cause a range of overlapping human developmental phenotypes, including a phenotypically distinct subgroup of CdLS. © The Author 2014. Published by Oxford University Press. All rights reserved.Published by Oxford University Press. All rights reserved.

Published
2014

43. Greig Cephalopolysyndactyly Syndrome

Author

Timor-Tritsch, Ilan E., primary, Kapp, Sarah, additional, Berg, Robert, additional, Bejjani, Bassem A., additional, Adams, Sara Anne, additional, Monteagudo, Ana, additional, Divon, Michael, additional, and Pappas, John G., additional

Published
2009
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46. Teacher and Counselor Education: An Integration of Training Experiences

Author

Thayer, Louis C. and Pappas, John G.

Abstract

Brief comment on an experimental program which integrated components of teacher education and counselor education. Feedback from the trainees involved reflected a positive evaluation of the integrated experiences. (JC)

Published
1973

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