Search

Your search keyword '"G. Eda Utine"' showing total 6 results
Start Over Author "G. Eda Utine" Language english
6 results on '"G. Eda Utine"'

1. The ARID1B spectrum in 143 patients

Author

Catherine Vincent-Delorme, Claudia A. L. Ruivenkamp, Marjan De Rademaeker, Francisco Martínez, Tracy Dudding-Byth, Marianne McGuire, Bert B.A. de Vries, Mitsuhiro Kato, Levinus A. Bok, Hülya Kayserili, Jeff M. Milunsky, Suzanne C E H Sallevelt, Alwin F. J. Brouwer, Jill Clayton-Smith, Emilia K. Bijlsma, Miranda Splitt, Patricia G. Wheeler, Philippe M. Campeau, Fatma Mujgan Sonmez, Kylin Lammers, Stefanie Beck-Wödl, Caroline Rooryck, Louise C. Wilson, Evan E. Eichler, Sarina G. Kant, Johanna C. Herkert, Karin R. Heitink, Eyyup Uctepe, Pleuntje J. van der Sluijs, Miho Adachi-Fukuda, Lone W. Laulund, Sandra Jansen, Nicolette S. den Hollander, Damien Lederer, Tomoki Kosho, Constance T. R. M. Stumpel, Saskia M. Maas, Esra Kılıç, Erica H. Gerkes, Duco Steenbeek, Melissa Lees, Kay Metcalfe, Karin Dahan, Ineke van der Burgt, Isabelle Maystadt, Christian Netzer, Ute Grasshoff, Carmen Orellana, Mahmut Şamil Sağıroğlu, Gijs W. E. Santen, Pelin Ozlem Simsek-Kiper, Mónica Roselló, Gabriela Soares, Alexander P.A. Stegmann, Stephen P. Robertson, Adila Al-Kindy, Maian Roifman, Saori Tanabe, Vera Riehmer, Brain H Y Chung, Arie van Haeringen, G. Eda Utine, Yasemin Alanay, Rogier Kersseboom, John B. Moeschler, Barbara Oehl-Jaschkowitz, Katherine Berry, Denise Horn, Alice Gardham, Shane McKee, Anwar Baban, Amparo Sanchis Calvo, Golder N. Wilson, Krystyna H. Chrzanowska, G. M. S. Mancini, Ellen R. Elias, Małgorzata Krajewska-Walasek, Rolph Pfundt, Sarju G. Mehta, Fabienne G. Ropers, Seiji Mizuno, David Hunt, Caroline Pottinger, Dagmar Wieczorek, Yoyo W. Y. Chu, Laurent Pasquier, Bernd Wollnik, Nobuhiko Okamoto, Sunita Venkateswaran, Vanesa López-González, Natalie Canham, Blanca Gener, Anne Destree, Christina Fagerberg, Rachel K. Earl, Sharon N M Olminkhof, Nursel Elcioglu, Charlotte W. Ockeloen, Carlo Marcelis, Samantha A. Vergano, Hermine E. Veenstra-Knol, Anneke T. Vulto-van Silfhout, Allan Bayat, Catheline Vilain, Lucia Solaeche, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Genetica & Celbiologie, MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA Pat Cytologie (9), Klinische Genetica, van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Woedl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hulya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, Lopez-Gonzalez, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Clayton-Smith, Jill, Santen, Gijs W. E., Erasmus MC other, Clinical Genetics, Human Genetics, and Acibadem University Dspace

Subjects
Male, 0301 basic medicine, Hypertrichosis, Pediatrics, cuello, bias, Coffin–Siris syndrome, Chromosomal Proteins, Non-Histone, humanos, adolescente, Penetrance, PHENOTYPE, 0302 clinical medicine, Genotype, Intellectual disability, Exome, Coffin-Siris syndrome, Child, mediana edad, Genetics (clinical), Exome sequencing, factores de transcripción, adulto, Middle Aged, estudios de asociación genética, 3. Good health, DNA-Binding Proteins, intellectual disability, Child, Preschool, discapacidad intelectual, penetrancia, Female, Hand Deformities, Congenital, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, Adolescent, Micrognathism, Article, CHROMATIN-REMODELING COMPLEX, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, cara, micrognatismo, Human Phenotype Ontology, medicine, Humans, Abnormalities, Multiple, mutación, Long eyelashes, Genetic Association Studies, lactante, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, MUTATIONS, proteínas de unión al ADN, Infant, Newborn, Genetic Variation, Infant, ARID1B, Hand Deformities, Phalanx, medicine.disease, variación genética, deformidades de la mano, exoma, 030104 developmental biology, Face, Mutation, business, Neck, 030217 neurology & neurosurgery, Transcription Factors
Abstract

Purpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1BCSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting. Methods: Clinicians entered clinical data in an extensive webbased survey. Results: 79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified. Conclusion: There are only minor differences between ARID1BID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features., We are grateful for the assistance of Pepijn Cox in setting up the website www.arid1bgene.com. This study has made use of data generated by the Human Disease Genes website series, www.humandiseasegenes.com. This work was financially supported by grants from the Netherlands Organisation for Health Research and Development (917-86-319 to B.B.A.d.V., 912-12-109 to B.B.A.d.V.)

Published
2019
Full Text
View/download PDF

2. Correction: The ARID1B spectrum in 143 patients

Author

Mitsuhiro Kato, Grazia M.S. Mancini, Krystyna H. Chrzanowska, Alexander P.A. Stegmann, Stephen P. Robertson, Suzanne C E H Sallevelt, Yasemin Alanay, Melissa Lees, Sarju G. Mehta, Anne Destree, Emilia K. Bijlsma, Seiji Mizuno, David Hunt, Laurent Pasquier, H. lya Kayserili, Karin R. Heitink, Ineke van der Burgt, Christian Netzer, Duco Steenbeek, Mónica Roselló, Rachel K. Earl, Sharon N. M. Olminkhof, Arie van Haeringen, Katherine Berry, Ute Grasshoff, Francisco Martínez, Alwin F. J. Brouwer, Nursel Elcioglu, Patricia G. Wheeler, Rolph Pfundt, Shane McKee, Maian Roifman, Yoyo W. Y. Chu, Brain H. Y. Chung, John B. Moeschler, Barbara Oehl-Jaschkowitz, Denise Horn, Karin Dahan, Ellen R. Elias, Natalie Canham, Pelin Ozlem Simsek-Kiper, Vanesa López-González, Samantha A. Vergano, Tracy Dudding-Byth, Esra Kılıç, Charlotte W. Ockeloen, Carlo Marcelis, Levinus A. Bok, Gijs W. E. Santen, Philippe M. Campeau, Kylin Lammers, Anneke T. Vulto-van Silfhout, Stefanie Beck-Wödl, Allan Bayat, Eyyup Uctepe, Louise C. Wilson, Sarina G. Kant, Pleuntje J. van der Sluijs, Fatma Mujgan Sonmez, Tomoki Kosho, Marianne McGuire, Evan E. Eichler, Mahmut Şamil Sağıroğlu, Vera Riehmer, Caroline Rooryck, Miho Adachi-Fukuda, Rogier Kersseboom, Saskia M. Maas, Jeff M. Milunsky, Johanna C. Herkert, Anwar Baban, Nicolette S. den Hollander, Amparo Sanchis Calvo, Lone W. Laulund, Sandra Jansen, Golder N. Wilson, Kay Metcalfe, Fabienne G. Ropers, Caroline Pottinger, Gabriela Soares, Isabelle Maystadt, Miranda Splitt, Constance T. R. M. Stumpel, Catherine Vincent-Delorme, Bert B.A. de Vries, Jill Clayton-Smith, Claudia A. L. Ruivenkamp, Marjan De Rademaeker, Bernd Wollnik, Nobuhiko Okamoto, Christina Fagerberg, Erica H. Gerkes, Damien Lederer, Carmen Orellana, Alice Gardham, Saori Tanabe, Małgorzata Krajewska-Walasek, Adila Al-Kindy, Catheline Vilain, Dagmar Wieczorek, G. Eda Utine, Sunita Venkateswaran, Blanca Gener, Lucia Solaeche, and Hermine E. Veenstra-Knol

Subjects
0303 health sciences, Coffin–Siris syndrome, Correction, medicine.disease, Genealogy, Spelling, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Intellectual disability, medicine, Psychology, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology
Abstract

The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.) van der Sluijs. This has now been corrected in both the PDF and HTML versions of the Article.

Published
2019
Full Text
View/download PDF

3. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Author

Janine Altmüller, Stefan Böhringer, G. Eda Utine, Krystyna H. Chrzanowska, Peter Nürnberg, Maria Teresa Dotti, Marcel Martin, Holger Thiele, Johanna Christina Czeschik, Esra Kılıç, Gunnar Houge, Almuth Caliebe, Sigrid Tinschert, Koray Boduroğlu, Yun Li, Francesca Cristofoli, Filippo Beleggia, Fanny Morice-Picard, Christiane Zweier, Michèle Mathieu Dramard, Joris Vermeesch, Małgorzata Krajewska-Walasek, Beate Albrecht, Hermann-Josef Lüdecke, Ozgur Cogulu, Yasemin Alanay, Annabella Marozza, Hülya Kayserili, Timm O. Goecke, Koenraad Devriendt, Bernd Wollnik, Catheline Vilain, Pelin Ozlem Simsek-Kiper, Esther Pohl, Anita Rauch, Barbara Mikat, Michael Zeschnigk, Nursel Elcioglu, R. Vivarelli, Joussef Hayek, Alma Kuechler, Stanislas Lyonnet, Esther Milz, Dagmar Wieczorek, Sven Rahmann, Encarnación Guillén-Navarro, Blanca Gener, Ludger Klein-Hitpass, Nina Bögershausen, Gilles Morin, Ferda Ozkinay, Alessandra Renieri, Vanesa López-González, Sabine Steiner-Haldenstätt, Andreas Wollstein, Francesca Mari, İç Hastalıkları, Acibadem University Dspace, Wieczorek, Dagmar, Boegershausen, Nina, Beleggia, Filippo, Steiner-Haldenstaett, Sabine, Pohl, Esther, Li, Yun, Milz, Esther, Martin, Marcel, Thiele, Holger, Altmueller, Janine, Alanay, Yasemin, Kayserili, Hulya, Klein-Hitpass, Ludger, Bohringer, Stefan, Wollstein, Andreas, Albrecht, Beate, Boduroglu, Koray, Caliebe, Almuth, Chrzanowska, Krystyna, Cogulu, Ozgur, Cristofoli, Francesca, Czeschik, Johanna Christina, Devriendt, Koenraad, Dotti, Maria Teresa, Elcioglu, Nursel, Gener, Blanca, Goecke, Timm O., Krajewska-Walasek, Malgorzata, Guillen-Navarro, Encarnacion, Hayek, Joussef, Houge, Gunnar, Kilic, Esra, Simsek-Kiper, Pelin Ozlem, Lopez-Gonzalez, Vanesa, Kuechler, Alma, Lyonnet, Stanislas, Mari, Francesca, Marozza, Annabella, Dramard, Michele Mathieu, Mikat, Barbara, Morin, Gilles, Morice-Picard, Fanny, Ozkinay, Ferda, Rauch, Anita, Renieri, Alessandra, Tinschert, Sigrid, Utine, G. Eda, Vilain, Catheline, Vivarelli, Rossella, Zweier, Christiane, Nuernberg, Peter, Rahmann, Sven, Vermeesch, Joris, Luedecke, Hermann-Josef, Zeschnigk, Michael, Wollnik, Bernd, Ege Üniversitesi, and University of Zurich

Subjects
Male, ARID1A, 10039 Institute of Medical Genetics, Chromosomal Proteins, Non-Histone, PHF6, Medizin, Hypotrichosis, Missense mutation, Exome, FORSSMAN-LEHMANN-SYNDROME, INTELLECTUAL DISABILITY, MENTAL-RETARDATION, MUTATIONS, SWI/SNF, COMPLEX, COMPONENTS, ARID1B, SMARCB1, Child, Genetics (clinical), Sequence Deletion, Genetics, Genetics & Heredity, biology, High-Throughput Nucleotide Sequencing, General Medicine, SMARCB1 Protein, Phenotype, Chromatin, DNA-Binding Proteins, Histone, Child, Preschool, Female, Hand Deformities, Congenital, Adult, 2716 Genetics (clinical), Biochemistry & Molecular Biology, Adolescent, Foot Deformities, Congenital, Micrognathism, Mutation, Missense, 610 Medicine & health, Chromatin remodeling, 1311 Genetics, Intellectual Disability, 1312 Molecular Biology, Nucleosome, Humans, Abnormalities, Multiple, Molecular Biology, Infant, Newborn, Facies, Infant, Chromatin Assembly and Disassembly, Repressor Proteins, Face, Karyotyping, biology.protein, 570 Life sciences, Carrier Proteins, Neck, Transcription Factors
Abstract

WOS: 000327800400004, PubMed ID: 23906836, Chromatin remodeling complexes are known to modify chemical marks on histones or to induce conformational changes in the chromatin in order to regulate transcription. Denovodominant mutations in different members of the SWI/SNF chromatin remodeling complex have recently been described in individuals with Coffin-Siris (CSS) and Nicolaides-Baraitser (NCBRS) syndromes. Using a combination of whole-exome sequencing, NGS-based sequencing of 23 SWI/SNF complex genes, and molecular karyotyping in 46 previously undescribed individuals with CSS and NCBRS, we identified a de novo 1-bp deletion (c.677delG, p.Gly226Glufs*53) and a de novo missense mutation (c.914G>T, p.Cys305Phe) in PHF6 in two individuals diagnosed with CSS. PHF6 interacts with the nucleosome remodeling and deacetylation ( NuRD) complex implicating dysfunction of a second chromatin remodeling complex in the pathogenesis of CSS-like phenotypes. Altogether, we identified mutations in 60% of the studied individuals (28/46), located in the genes ARID1A, ARID1B, SMARCB1, SMARCE1, SMARCA2, and PHF6. We show that mutations in ARID1B are the main cause of CSS, accounting for 76% of identified mutations. ARID1B and SMARCB1 mutations were also found in individuals with the initial diagnosis of NCBRS. These individuals apparently belong to a small subset who display an intermediate CSS/NCBRS phenotype. Our proposed genotype-phenotype correlations are important for molecular screening strategies., German Federal Ministry of Education and Research (BMBF)Federal Ministry of Education & Research (BMBF) [01GM1211A, 01GM1211B]; TUBITAKTurkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [112S398]; ERARE-ANR CraniRareFrench National Research Agency (ANR); German Federal Ministry of Education and ResearchFederal Ministry of Education & Research (BMBF) [01GS08167]; DFGGerman Research Foundation (DFG) [BO 1955/2-3, WU 314/6-2]; Volkswagen FoundationVolkswagen [86042]; Telethon ItalyFondazione Telethon [GTB12001], This work was part of the CRANIRARE-2 Network funded by the German Federal Ministry of Education and Research (BMBF) (01GM1211A to B. W., 01GM1211B to D. W.), the TUBITAK (112S398 to H. K.) and ERARE-ANR CraniRare to S. L. This work was also funded by a grant (MRNET) from the German Federal Ministry of Education and Research (01GS08167 to D. W.), by DFG grants (BO 1955/2-3 and WU 314/6-2 to S. B. and D. W.) and by the Volkswagen Foundation (ref 86042 to A. W.). The biobank "Cell lines and DNA bank of Rett syndrome, X linked Mental Retardation and other genetic diseases", member of the Telethon Network of Genetic Biobanks (project no. GTB12001), funded by Telethon Italy, provided us with specimens.

Published
2017

4. Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

Author

Bernard Zabel, Elaine C. Davis, Hrispima Avaygan, Cindy J.R. Curry, Shawna M. Pyott, Filiz Bakar, David R. Eyre, Andrea Superti-Furga, Natalia Camacho, Brendan Lee, Daniel H. Cohn, Ergul Tuncbilek, Dilek Aktas, Deborah Krakow, Diclehan Orhan, Amy E. Merrill, Peter H. Byers, Yasemin Alanay, Mehmet Alikasifoglu, Nurten A. Akarsu, Dustin Baldridge, Leena Bruckner-Tuderman, Koray Boduroğlu, G. Eda Utine, and Çocuk Sağlığı ve Hastalıkları

Subjects
education, Locus (genetics), macromolecular substances, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, medicine, Genetics, Genetics(clinical), Gene, Genetics (clinical), 030304 developmental biology, Genetics & Heredity, 0303 health sciences, integumentary system, Genetic heterogeneity, 030305 genetics & heredity, medicine.disease, Osteochondrodysplasia, 3. Good health, Chromosome 17 (human), Procollagen peptidase, Osteogenesis imperfecta, Erratum, Bruck syndrome, 030217 neurology & neurosurgery
Abstract

Osteogenesis imperfecta is a clinically and genetically heterogeneous brittle bone disorder that results from defects in the synthesis, structure, or posttranslational modification of type I procollagen. Dominant forms of OI result from mutations in COL1A1 or COL1A2, which encode the chains of the type I procollagen heterotrimer. The mildest form of OI typically results from diminished synthesis of structurally normal type 1 procollagen, whereas moderately severe to lethal forms of OI usually result from structural defects in one of the type 1 procollagen chains. Recessively inherited OI, usually phenotypically severe, has recently been shown to result from defects in the prolyl-3-hydroxylase complex that lead to the absence of a single 3-hydroxyproline at residue 986 of the alpha 1 (I) triple helical domain. We studied a cohort of five consanguineous Turkish families, originating from the Black Sea region of Turkey, with moderately severe recessively inherited OI and identified a novel locus for OI on chromosome 17. In these families, and in a Mexican-American family, homozygosity for mutations in FKBP10, which encodes FKBP65, a chaperone that participates in type 1 procollagen folding, was identified. Further, we determined that FKBP10 mutations affect type I procollagen secretion. These findings identify a previously unrecognized mechanism in the pathogenesis of OI.

Published
2010

5. Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2.

Author

Akalın A, Ayaz E, Soğukpınar M, Avcı-Durmuşalioğlu E, Ürel-Demir G, Yıldız AE, Atik T, Elcioglu NH, Eda Utine G, and Şimşek-Kiper PÖ

Subjects
Alleles, rab GTP-Binding Proteins genetics, Adolescent, Child, Preschool, Intellectual Disability genetics, Intellectual Disability pathology, Female, Humans, Follow-Up Studies, Consanguinity, Adult, Microcephaly, Male, Young Adult, Infant, Child, Phenotype, Intracellular Signaling Peptides and Proteins, Pedigree, Fetal Growth Retardation, Osteochondrodysplasias pathology, Osteochondrodysplasias genetics, Osteochondrodysplasias diagnostic imaging, Osteochondrodysplasias diagnosis, Osteochondrodysplasias congenital, Mutation genetics, Dwarfism genetics, Dwarfism pathology, Dwarfism diagnostic imaging, Dwarfism diagnosis
Abstract

Dyggve-Melchior-Clausen dysplasia (DMC) and Smith-McCort dysplasia (SMC types 1 and 2) are rare spondylo-epi-metaphyseal dysplasias with identical radiological and clinical findings. DMC and SMC type 1 are allelic disorders caused by homozygous or compound heterozygous variants in DYM, while biallelic causative variants in RAB33B lead to SMC type 2. The terminology "skeletal golgipathies" has been recently used to describe these conditions, highlighting the pivotal role of these two genes in the organization and intracellular trafficking of the Golgi apparatus. In this study, we investigated 17 affected individuals (8 males, 9 females) from 10 unrelated consanguineous families, 10 diagnosed with DMC and seven with SMC type 2. The mean age at diagnosis was 9.61 ± 9.72 years, ranging from 20 months to 34 years, and the average height at diagnosis was 92.85 ± 15.50 cm. All patients exhibited variable degrees of short trunk with a barrel chest, protruding abdomen, hyperlordosis, and decreased joint mobility. A total of nine different biallelic variants were identified, with six being located in the DYM gene and the remaining three detected in RAB33B. Notably, five variants were classified as novel, four in the DYM gene and one in the RAB33B gene. This study aims to comprehensively assess clinical, radiological, and molecular findings along with the long-term follow-up findings in 17 patients with DMC and SMC type 2. Our results suggest that clinical symptoms of the disorder typically appear from infancy to early childhood. The central notches of the vertebral bodies were identified as early as 20 months and tended to become rectangular, particularly around 15 years of age. Pseudoepiphysis was observed in five patients; we believe this finding should be taken into consideration when evaluating hand radiographs in clinical assessments. Furthermore, our research contributes to an enhanced understanding of clinical and molecular aspects in these rare "skeletal golgipathies," expanding the mutational spectrum and offering insights into long-term disease outcomes., (© 2024 Wiley Periodicals LLC.)

Published
2024
Full Text
View/download PDF

6. Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20).

Author

Ürel-Demir G, Akgün-Doğan Ö, Oğuz S, Güleray-Lafcı N, Şimşek-Kiper PÖ, Eda Utine G, Alikaşifoğlu M, and Boduroğlu K

Abstract

Copy number variations in subtelomeric regions of chromosomes 17 and 20 are associated with intellectual disability and various systemic manifestations. Microarray analysis allows identification of submicroscopic chromosomal abnormalities and is applicable to elucidate the etiology of cognitive impairment in approximately one-fifth of the cases. In the present study, we report on 3 male children from 2 sisters, who suffered from intellectual disability, facial dysmorphism, and epilepsy. Despite the initial suggestion of an X-linked inheritance, the condition was associated with 17q25.3 duplication and concomitant 20q13.33 deletion, as detected by microarray analysis. Coexistence of a deletion and a duplication suggests unbalanced segregation of a parental balanced translocation. Further investigations revealed maternal balanced translocations, which resulted in copy number aberrations in the children following unbalanced segregations. The work-up underlined the importance of genomic screening using microarrays as the first-tier diagnostic tool in intellectual disability, despite an apparent X-linked segregation in the pedigree., Competing Interests: The authors have no conflicts of interest to declare., (Copyright © 2020 by S. Karger AG, Basel.)

Published
2020
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results