Search

Your search keyword '"Schneider, Adele"' showing total 275 results
Start Over Author "Schneider, Adele"
275 results on '"Schneider, Adele"'

51. Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

Author

Johnston Jennifer J, Ng David, Schneider Adele S, Bardakjian Tanya M, and Biesecker Leslie G

Subjects
Internal medicine, RC31-1245, Genetics, QH426-470
Abstract

Abstract Background Anophthalmia and microphthalmia are etiologically and clinically heterogeneous. Lenz microphthalmia is a syndromic form that is typically inherited in an X-linked pattern, though the causative gene mutation is unknown. Townes-Brocks syndrome manifests thumb anomalies, imperforate anus, and ear anomalies. We present a 13-year-old boy with a syndromic microphthalmia phenotype and a clinical diagnosis of Lenz microphthalmia syndrome. Case Presentation The patient was subjected to clinical and molecular evaluation, including array CGH analysis. The clinical features included left clinical anophthalmia, right microphthalmia, anteriorly placed anus with fistula, chordee, ventriculoseptal defect, patent ductus arteriosus, posteriorly rotated ears, hypotonia, growth retardation with delayed bone age, and mental retardation. The patient was found to have an approximately 5.6 Mb deletion of 16q11.2q12.1 by microarray based-comparative genomic hybridization, which includes the SALL1 gene, which causes Townes-Brocks syndrome. Conclusions Deletions of 16q11.2q12.2 have been reported in several individuals, although those prior reports did not note microphthalmia or anophthalmia. This region includes SALL1, which causes Townes-Brocks syndrome. In retrospect, this child has a number of features that can be explained by the SALL1 deletion, although it is not clear if the microphthalmia is a rare feature of Townes-Brocks syndrome or caused by other mechanisms. These data suggest that rare copy number changes may be a cause of syndromic microphthalmia allowing a personalized genomic medicine approach to the care of patients with these aberrations.

Published
2009
Full Text
View/download PDF

52. Early transfer to a rehabilitation hospital for infants with chronic bronchopulmonary dysplasia

Author

Bachrach, Steven J., Pidock, Frank S., Branca, Paul A., Gilbert, Patricia L., Schneider, Adele, Walko, Lisa, and McHugh, Barbara

Subjects
Bronchopulmonary dysplasia -- Care and treatment, Infants (Newborn) -- Hospital care, Health
Abstract

Approximately 25% of very-low-birthweight infants, or those who weigh less than 1,500 grams, are afflicted with bronchopulmonary dysplasia (BPD), which is defined as an ongoing oxygen requirement at 28 days of age. The incidence of survival of very-low-birthweight infants rose to 70% to 80% in the early 1980s. Forty-three infants with severe chronic BPD were weaned off the respirator and transferred from an intensive care nursery at a teaching hospital to a program that included special staff instruction at an affiliated children's rehabilitation hospital. Morbidity was lower in this group than in a comparison group of 15 infants who were treated for BPD during the previous 2 years, and their length of stay was shortened, for an average savings of $60,000 per patient. Use of a rehabilitation hospital as a stepdown unit redirects the emphasis from acute needs to chronic and developmental needs and from intensive monitoring and nursing care to home care by parents assisted by nurses.

Published
1993

54. The Library's Role in Remediation: A Cooperative Program of Physical and Philosophical Integration at Kingsborough Community College.

Author

Schneider, Adele and Fuhr, Morton L.

Abstract

Describes a cooperative program of bibliographic instruction offered jointly by the library and English department at Kingsborough Community College, New York. Describes the use of library-prepared worksheets to familiarize students with bibliographic tools. Assesses student gains in information science mastery. (CBC)

Published
1982

56. ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

Author

Yahyavi, Mani, Abouzeid, Hana, Gawdat, Ghada, de Preux, Anne-Sophie, Xiao, Tong, Bardakjian, Tanya, Schneider, Adele, Choi, Alex, Jorgenson, Eric, Baier, Herwig, El Sada, Mohamad, Schorderet, Daniel F., Slavotinek, Anne M., Yahyavi, Mani, Abouzeid, Hana, Gawdat, Ghada, de Preux, Anne-Sophie, Xiao, Tong, Bardakjian, Tanya, Schneider, Adele, Choi, Alex, Jorgenson, Eric, Baier, Herwig, El Sada, Mohamad, Schorderet, Daniel F., and Slavotinek, Anne M.

Abstract

The major active retinoid, all-trans retinoic acid, has long been recognized as critical for the development of several organs, including the eye. Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with Matthew-Wood syndrome and anophthalmia/microphthalmia (A/M), have previously demonstrated the importance of retinol metabolism in human eye disease. We used homozygosity mapping combined with next-generation sequencing to interrogate patients with anophthalmia and microphthalmia for new causative genes. We used whole-exome and whole-genome sequencing to study a family with two affected brothers with bilateral A/M and a simplex case with bilateral anophthalmia and hypoplasia of the optic nerve and optic chiasm. Analysis of novel sequence variants revealed homozygosity for two nonsense mutations in ALDH1A3, c.568A>G, predicting p.Lys190*, in the familial cases, and c.1165A>T, predicting p.Lys389*, in the simplex case. Both mutations predict nonsense-mediated decay and complete loss of function. We performed antisense morpholino (MO) studies in Danio rerio to characterize the developmental effects of loss of Aldh1a3 function. MO-injected larvae showed a significant reduction in eye size, and aberrant axonal projections to the tectum were noted. We conclude that ALDH1A3 loss of function causes anophthalmia and aberrant eye development in humans and in animal model systems

Published
2017

57. De novo missense variants in LMBRD2are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features

Author

Malhotra, Alka, Ziegler, Alban, Shu, Li, Perrier, Renee, Amlie-Wolf, Louise, Wohler, Elizabeth, Lygia de Macena Sobreira, Nara, Colin, Estelle, Vanderver, Adeline, Sherbini, Omar, Stouffs, Katrien, Scalais, Emmanuel, Serretti, Alessandro, Barth, Magalie, Navet, Benjamin, Rollier, Paul, Xi, Hui, Wang, Hua, Zhang, Hainan, Perry, Denise L, Ferrarini, Alessandra, Colombo, Roberto, Pepler, Alexander, Schneider, Adele, Tomiwa, Kiyotaka, Okamoto, Nobuhiko, Matsumoto, Naomichi, Miyake, Noriko, Taft, Ryan, Mao, Xiao, and Bonneau, Dominique

Abstract

ObjectiveTo determine the potential disease association between variants in LMBRD2and complex multisystem neurological and developmental delay phenotypes.MethodsHere we describe a series of de novo missense variants in LMBRD2in 10 unrelated individuals with overlapping features. Exome sequencing or genome sequencing was performed on all individuals, and the cohort was assembled through GeneMatcher.ResultsLMBRD2encodes an evolutionary ancient and widely expressed transmembrane protein with no known disease association, although two paralogues are involved in developmental and metabolic disorders. Exome or genome sequencing revealed rare de novo LMBRD2missense variants in 10 individuals with developmental delay, intellectual disability, thin corpus callosum, microcephaly and seizures. We identified five unique variants and two recurrent variants, c.1448G>A (p.Arg483His) in three cases and c.367T>C (p.Trp123Arg) in two cases. All variants are absent from population allele frequency databases, and most are predicted to be deleterious by multiple in silico damage-prediction algorithms.ConclusionThese findings indicate that rare de novo variants in LMBRD2can lead to a previously unrecognised early-onset neurodevelopmental disorder. Further investigation of individuals harbouring LMBRD2variants may lead to a better understanding of the function of this ubiquitously expressed gene.

Published
2021
Full Text
View/download PDF

58. Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia

Author

Zhou, Jie, Kherani, Femida, Bardakjian, Tanya M., Katowitz, James, Hughes, Nkecha, Schimmenti, Lisa A., Schneider, Adele, and Young, Terri L.

Subjects
Homeodomain Proteins, Male, Heterozygote, Adolescent, SOXB1 Transcription Factors, Anophthalmos, Genetic Variation, Polymorphism, Single Nucleotide, Cohort Studies, DNA-Binding Proteins, HMGB Proteins, Mutation, Humans, Microphthalmos, Female, sense organs, Child, Research Article, Transcription Factors
Abstract

Purpose Mutations in the SOX2 and CHX10 genes have been reported in patients with anophthalmia and/or microphthalmia. In this study, we evaluated 34 anophthalmic/microphthalmic patient DNA samples (two sets of siblings included) for mutations and sequence variants in SOX2 and CHX10. Methods Conformational sensitive gel electrophoresis (CSGE) was used for the initial SOX2 and CHX10 screening of 34 affected individuals (two sets of siblings), five unaffected family members, and 80 healthy controls. Patient samples containing heteroduplexes were selected for sequence analysis. Base pair changes in SOX2 and CHX10 were confirmed by sequencing bidirectionally in patient samples. Results Two novel heterozygous mutations and two sequence variants (one known) in SOX2 were identified in this cohort. Mutation c.310 G>T (p. Glu104X), found in one patient, was in the region encoding the high mobility group (HMG) DNA-binding domain and resulted in a change from glutamic acid to a stop codon. The second mutation, noted in two affected siblings, was a single nucleotide deletion c.549delC (p. Pro184ArgfsX19) in the region encoding the activation domain, resulting in a frameshift and premature termination of the coding sequence. The shortened protein products may result in the loss of function. In addition, a novel nucleotide substitution c.*557G>A was identified in the 3′-untranslated region in one patient. The relationship between the nucleotide change and the protein function is indeterminate. A known single nucleotide polymorphism (c. *469 C>A, SNP rs11915160) was also detected in 2 of the 34 patients. Screening of CHX10 identified two synonymous sequence variants, c.471 C>T (p.Ser157Ser, rs35435463) and c.579 G>A (p. Gln193Gln, novel SNP), and one non-synonymous sequence variant, c.871 G>A (p. Asp291Asn, novel SNP). The non-synonymous polymorphism was also present in healthy controls, suggesting non-causality. Conclusions These results support the role of SOX2 in ocular development. Loss of SOX2 function results in severe eye malformation. CHX10 was not implicated with microphthalmia/anophthalmia in our patient cohort.

Published
2008

61. Novel PXDNbiallelic variants in patients with microphthalmia and anterior segment dysgenesis

Author

Zazo-Seco, Celia, Plaisancié, Julie, Bitoun, Pierre, Corton, Marta, Arteche, Ana, Ayuso, Carmen, Schneider, Adele, Zafeiropoulou, Dimitra, Gilissen, Christian, Roche, Olivier, Frémont, Felix, Calvas, Patrick, Slavotinek, Anne, Ragge, Nicola, and Chassaing, Nicolas

Abstract

Microphthalmia, anophthalmia, and anterior segment dysgenesis are severe ocular developmental defects. There is a wide genetic heterogeneity leading to these ocular malformations. By using whole genome, exome and targeted sequencing in patients with ocular developmental anomalies, six biallelic pathogenic variants (including five novel variants) were identified in the PXDNgene in four families with microphthalmia and anterior segment dysgenesis. Only 11 different mutations (11 families) have been described in this gene to date. The phenotype of these patients is variable in severity, ranging from cataract and developmental glaucoma to complex microphthalmia. Interestingly, two unrelated patients of our series presented with an ocular phenotype including aniridia and microspherophakia. However, despite various phenotypic presentations and types of mutations, no genotype-phenotype correlation could be made. Thus, this work improves our knowledge of the recessive phenotype associated with biallelic variants in this gene and highlights the importance of screening PXDNin patients with anterior segment dysgenesis with or without microphthalmia.

Published
2020
Full Text
View/download PDF

63. Gain-of-Function Mutations inRARBCause Intellectual Disability with Progressive Motor Impairment

Author

Srour, Myriam, primary, Caron, Véronique, additional, Pearson, Toni, additional, Nielsen, Sarah B., additional, Lévesque, Sébastien, additional, Delrue, Marie-Ange, additional, Becker, Troy A., additional, Hamdan, Fadi F., additional, Kibar, Zoha, additional, Sattler, Shannon G., additional, Schneider, Michael C., additional, Bitoun, Pierre, additional, Chassaing, Nicolas, additional, Rosenfeld, Jill A., additional, Xia, Fan, additional, Desai, Sonal, additional, Roeder, Elizabeth, additional, Kimonis, Virginia, additional, Schneider, Adele, additional, Littlejohn, Rebecca Okashah, additional, Douzgou, Sofia, additional, Tremblay, André, additional, and Michaud, Jacques L., additional

Published
2016
Full Text
View/download PDF

64. Whole-genome copy number variation analysis in anophthalmia and microphthalmia

Author

Schilter, Kala F., Reis, Linda M., Schneider, Adele, Bardakjian, Tanya M., Abdul-Rahman, Omar, Kozel, Beth A., Zimmerman, Holly H., Broeckel, Ulrich, and Semina, Elena V.

Subjects
Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, DNA Copy Number Variations, PAX6 Transcription Factor, Molecular Sequence Data, Severity of Illness Index, Article, Chromosome Duplication, Humans, Microphthalmos, Paired Box Transcription Factors, Eye Proteins, Sequence Deletion, Homeodomain Proteins, Neurofibromin 1, Base Sequence, Genome, Human, SOXB1 Transcription Factors, Infant, Newborn, Anophthalmos, Infant, eye diseases, Repressor Proteins, Phenotype, Child, Preschool, Female, sense organs
Abstract

Anophthalmia and microphthalmia (A/M) represent severe developmental ocular malformations. Currently, mutations in known genes explain less than 40% of A/M cases. We performed whole genome copy number variation analysis in sixty patients affected with isolated or syndromic A/M. Pathogenic deletions of 3q26 (SOX2) were identified in four independent patients with syndromic microphthalmia. Other variants of interest included regions with a known role in human disease (likely pathogenic) as well as novel rearrangements (uncertain significance). A 2.2-Mb duplication of 3q29 in a patient with nonsyndromic anophthalmia and an 877-kb duplication of 11p13 (PAX6) and a 1.4-Mb deletion of 17q11.2 (NF1) in two independent probands with syndromic microphthalmia and other ocular defects were identified; while ocular anomalies have been previously associated with 3q29 duplications, PAX6 duplications, and NF1 mutations in some cases, the ocular phenotypes observed here are more severe than previously reported. Three novel regions of possible interest included a 2q14.2 duplication which cosegregated with microphthalmia/microcornea and congenital cataracts in one family, and 2q21 and 15q26 duplications in two additional cases; each of these regions contains genes that are active during vertebrate ocular development. Overall, this study identified causative copy number mutations and regions with a possible role in ocular disease in 17% of A/M cases.

Published
2013

65. Anatomical Asplenia in Cat Eye Syndrome: An Expansion of the Disease Spectrum

Author

Chellapandian, DeepakBabu and Schneider, Adele

Subjects
Article Subject, behavioral disciplines and activities
Abstract

We report a patient with Cat eye syndrome (CES) associated with anatomical asplenia. To the best of our knowledge, there have been no prior reports of this association. Screening for asplenia in CES is potentially important, as asplenia places patients at increased risk for life-threatening bacterial infections. Hence patients with CES without a spleen may require the same routine precautions as any other asplenic patients, with penicillin prophylaxis and immunizations to protect against encapsulated organisms such as Streptococcus pneumoniae, Haemophilus influenzae type b, and Neisseria meningitidis.

Published
2013
Full Text
View/download PDF

68. Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

Author

Rainger, Joe, Beusekom, Ellen van, Ramsay, Jacqueline K., McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M., Schneider, Adele S., Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C. Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul C., Sousa, Sérgio B., Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J., Gillessen-Kaesbach, Gabriele Gertrud, Brunner, Han G., Wieczorek, Dagmar, Bokhoven, Hans van, FitzPatrick, David R., Rainger, Joe, Beusekom, Ellen van, Ramsay, Jacqueline K., McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M., Schneider, Adele S., Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C. Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul C., Sousa, Sérgio B., Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J., Gillessen-Kaesbach, Gabriele Gertrud, Brunner, Han G., Wieczorek, Dagmar, Bokhoven, Hans van, and FitzPatrick, David R.

Abstract

Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis of a locus on 14q24.2 identified homozygous mutations in SMOC1 (SPARC-related modular calcium binding 1) in eight unrelated families. Four of these mutations are nonsense, two frame-shift, and two missense. The missense mutations are both in the second Thyroglobulin Type-1 (Tg1) domain of the protein. The orthologous gene in the mouse, Smoc1, shows site- and stage-specific expression during eye, limb, craniofacial, and somite development. We also report a targeted pre-conditional gene-trap mutation of Smoc1 (Smoc1tm1a) that reduces mRNA to ~10% of wild-type levels. This gene-trap results in highly penetrant hindlimb post-axial oligosyndactyly in homozygous mutant animals (Smoc1tm1a/tm1a). Eye malformations, most commonly coloboma, and cleft palate occur in a significant proportion of Smoc1tm1a/tm1a embryos and pups. Thus partial loss of Smoc-1 results in a convincing phenocopy of the human disease. SMOC-1 is one of the two mammalian paralogs of Drosophila Pentagone, an inhibitor of decapentaplegic. The orthologous gene in Xenopus laevis, Smoc-1, also functions as a Bone Morphogenic Protein (BMP) antagonist in early embryogenesis. Loss of BMP antagonism during mammalian development provides a plausible explanation for both the limb and eye phenotype in humans and mice.

Published
2011

70. Genotypic and phenotypic analysis of 396 individuals with mutations inSonic Hedgehog

Author

Solomon, Benjamin D, primary, Bear, Kelly A, additional, Wyllie, Adrian, additional, Keaton, Amelia A, additional, Dubourg, Christele, additional, David, Veronique, additional, Mercier, Sandra, additional, Odent, Sylvie, additional, Hehr, Ute, additional, Paulussen, Aimee, additional, Clegg, Nancy J, additional, Delgado, Mauricio R, additional, Bale, Sherri J, additional, Lacbawan, Felicitas, additional, Ardinger, Holly H, additional, Aylsworth, Arthur S, additional, Bhengu, Ntombenhle Louisa, additional, Braddock, Stephen, additional, Brookhyser, Karen, additional, Burton, Barbara, additional, Gaspar, Harald, additional, Grix, Art, additional, Horovitz, Dafne, additional, Kanetzke, Erin, additional, Kayserili, Hulya, additional, Lev, Dorit, additional, Nikkel, Sarah M, additional, Norton, Mary, additional, Roberts, Richard, additional, Saal, Howard, additional, Schaefer, G B, additional, Schneider, Adele, additional, Smith, Erika K, additional, Sowry, Ellen, additional, Spence, M Anne, additional, Shalev, Stavit A, additional, Steiner, Carlos E, additional, Thompson, Elizabeth M, additional, Winder, Thomas L, additional, Balog, Joan Z, additional, Hadley, Donald W, additional, Zhou, Nan, additional, Pineda-Alvarez, Daniel E, additional, Roessler, Erich, additional, and Muenke, Maximilian, additional

Published
2012
Full Text
View/download PDF

73. VAX1mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of aVAX1phenotype in humans

Author

Slavotinek, Anne M., primary, Chao, Ryan, additional, Vacik, Tomas, additional, Yahyavi, Mani, additional, Abouzeid, Hana, additional, Bardakjian, Tanya, additional, Schneider, Adele, additional, Shaw, Gary, additional, Sherr, Elliott H., additional, Lemke, Greg, additional, Youssef, Mohammed, additional, and Schorderet, Daniel F., additional

Published
2011
Full Text
View/download PDF

76. Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Author

Rainger, Joe, primary, van Beusekom, Ellen, additional, Ramsay, Jacqueline K., additional, McKie, Lisa, additional, Al-Gazali, Lihadh, additional, Pallotta, Rosanna, additional, Saponari, Anita, additional, Branney, Peter, additional, Fisher, Malcolm, additional, Morrison, Harris, additional, Bicknell, Louise, additional, Gautier, Philippe, additional, Perry, Paul, additional, Sokhi, Kishan, additional, Sexton, David, additional, Bardakjian, Tanya M., additional, Schneider, Adele S., additional, Elcioglu, Nursel, additional, Ozkinay, Ferda, additional, Koenig, Rainer, additional, Mégarbané, Andre, additional, Semerci, C. Nur, additional, Khan, Ayesha, additional, Zafar, Saemah, additional, Hennekam, Raoul, additional, Sousa, Sérgio B., additional, Ramos, Lina, additional, Garavelli, Livia, additional, Furga, Andrea Superti, additional, Wischmeijer, Anita, additional, Jackson, Ian J., additional, Gillessen-Kaesbach, Gabriele, additional, Brunner, Han G., additional, Wieczorek, Dagmar, additional, van Bokhoven, Hans, additional, and FitzPatrick, David R., additional

Published
2011
Full Text
View/download PDF

82. Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase a enzyme assay is essential for accurate testing

Author

Schneider, Adele, primary, Nakagawa, Sachiko, additional, Keep, Rosanne, additional, Dorsainville, Darnelle, additional, Charrow, Joel, additional, Aleck, Kirk, additional, Hoffman, Jodi, additional, Minkoff, Sherman, additional, Finegold, David, additional, Sun, Wei, additional, Spencer, Andrew, additional, Lebow, Johannah, additional, Zhan, Jie, additional, Apfelroth, Stephen, additional, Schreiber-Agus, Nicole, additional, and Gross, Susan, additional

Published
2009
Full Text
View/download PDF

83. Familial recurrence ofSOX2anophthalmia syndrome: Phenotypically normal mother with two affected daughters

Author

Schneider, Adele, primary, Bardakjian, Tanya M., additional, Zhou, Jie, additional, Hughes, Nkecha, additional, Keep, Rosanne, additional, Dorsainville, Darnelle, additional, Kherani, Femida, additional, Katowitz, James, additional, Schimmenti, Lisa A., additional, Hummel, Marybeth, additional, FitzPatrick, David R., additional, and Young, Terri L., additional

Published
2008
Full Text
View/download PDF

85. SOX2 anophthalmia syndrome

Author

Ragge, Nicola K., primary, Lorenz, Birgit, additional, Schneider, Adele, additional, Bushby, Kate, additional, de Sanctis, Luisa, additional, de Sanctis, Ugo, additional, Salt, Alison, additional, Collin, J. Richard O., additional, Vivian, Anthony J., additional, Free, Samantha L., additional, Thompson, Pamela, additional, Williamson, Kathleen A., additional, Sisodiya, Sanjay M., additional, van Heyningen, Veronica, additional, and FitzPatrick, David R., additional

Published
2005
Full Text
View/download PDF

87. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR

Author

Ng, David, primary, Thakker, Nalin, additional, Corcoran, Connie M, additional, Donnai, Dian, additional, Perveen, Rahat, additional, Schneider, Adele, additional, Hadley, Donald W, additional, Tifft, Cynthia, additional, Zhang, Liqun, additional, Wilkie, Andrew O M, additional, van der Smagt, Jasper J, additional, Gorlin, Robert J, additional, Burgess, Shawn M, additional, Bardwell, Vivian J, additional, Black, Graeme C M, additional, and Biesecker, Leslie G, additional

Published
2004
Full Text
View/download PDF

95. High cesarean section rate in trisomy 18 briths: A potential indication for late prenatal diagnosis

Author

Schneider, Adele S., Mennuti, Michael T., and Zackai, Elaine H.

Abstract

The frequency of and indications for primary cesarean section delivery of infants with trisomy 18 was evaluated retrospectively by reviewing the obstetric records of the 48 cases of trisomy 18 diagnosed over a 10-year period by three Genetic Centers in Philadelphia. From June, 1969, to June, 1974, four of 20 infants with trisomy 18 were delivered by primary cesarean section (20%). From June, 1974, to June, 1979, the primary cesarean section rate for trisomy 18 rose to 55.6% (15/28). These rates are considerably higher than those for the State of Pennsylvania during the same time intervals (6.10% and 10.00%, respectively). In the latter 5-year interval, 13 of 15 primary cesarean sections were performed for fetal indications, and “fetal distress” was diagnosed in 11 of the 13. The obstetric features of these pregnancies are reviewed. The basis for a clinical suspicion of trisomy 18 during the third trimester and the possible benefit of late-pregnancy prenatal cytogenetic diagnosis in selected cases are discussed.

Published
1981
Full Text
View/download PDF

96. VAX1 Mutation Associated with Microphthalmia, Corpus Callosum Agenesis, and Orofacial Clefting: The First Description of a VAX1 Phenotype in Humans

Author

Slavotinek, Anne M., Chao, Ryan, Vacik, Tomas, Yahyavi, Mani, Abouzeid, Hana, Bardakjian, Tanya, Schneider, Adele, Shaw, Gary, Sherr, Elliott H., Lemke, Greg, Youssef, Mohammed, and Schorderet, Daniel F.

Subjects
Homeodomain, Expression, Eye, eye diseases, Gene Activity, Pax6, anophthalmia/microphthalmia, Coloboma, Sonic Hedgehog, Vax2, Vax1, Forebrain, Family, Anophthalmia
Abstract

Vax1 and Vax2 have been implicated in eye development and the closure of the choroid fissure in mice and zebrafish. We sequenced the coding exons of VAX1 and VAX2 in 70 patients with anophthalmia/microphthalmia (A/M). In VAX1, we observed homozygosity for two successive nucleotide substitutions c.453G>A and c.454C>A, predicting p.Arg152Ser, in a proband of Egyptian origin with microphthalmia, small optic nerves, cleft lip/palate, and corpus callosum agenesis. This mutation affects an invariant residue in the homeodomain of VAX1 and was absent from 96 Egyptian controls. It is likely that the mutation results in a loss of function, as the mutation results in a phenotype similar to the Vax1 homozygous null mouse. We did not identify any mutations in VAX2. This is the first description of a phenotype associated with a VAX1 mutation in humans and establishes VAX1 as a new causative gene for A/M. Hum Mutat 33:364-368, 2012. (C) 2011 Wiley Periodicals, Inc.

97. ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

Author

Yahyavi, Mani, Abouzeid, Hana, Gawdat, Ghada, de Preux, Anne-Sophie, Xiao, Tong, Bardakjian, Tanya, Schneider, Adele, Choi, Alex, Jorgenson, Eric, Baier, Herwig, El Sada, Mohamad, Schorderet, Daniel F., Slavotinek, Anne M., Yahyavi, Mani, Abouzeid, Hana, Gawdat, Ghada, de Preux, Anne-Sophie, Xiao, Tong, Bardakjian, Tanya, Schneider, Adele, Choi, Alex, Jorgenson, Eric, Baier, Herwig, El Sada, Mohamad, Schorderet, Daniel F., and Slavotinek, Anne M.

Abstract

The major active retinoid, all-trans retinoic acid, has long been recognized as critical for the development of several organs, including the eye. Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with Matthew-Wood syndrome and anophthalmia/microphthalmia (A/M), have previously demonstrated the importance of retinol metabolism in human eye disease. We used homozygosity mapping combined with next-generation sequencing to interrogate patients with anophthalmia and microphthalmia for new causative genes. We used whole-exome and whole-genome sequencing to study a family with two affected brothers with bilateral A/M and a simplex case with bilateral anophthalmia and hypoplasia of the optic nerve and optic chiasm. Analysis of novel sequence variants revealed homozygosity for two nonsense mutations in ALDH1A3, c.568A>G, predicting p.Lys190*, in the familial cases, and c.1165A>T, predicting p.Lys389*, in the simplex case. Both mutations predict nonsense-mediated decay and complete loss of function. We performed antisense morpholino (MO) studies in Danio rerio to characterize the developmental effects of loss of Aldh1a3 function. MO-injected larvae showed a significant reduction in eye size, and aberrant axonal projections to the tectum were noted. We conclude that ALDH1A3 loss of function causes anophthalmia and aberrant eye development in humans and in animal model systems

Catalog

Books, media, physical & digital resources
See catalog results