WDR11 is another causative gene for coloboma,cardiac anomaly and growth retardation in 10q26 deletion syndrome |
| |
| Affiliation: | 1. Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan;2. Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan;3. Faculty of Bioscience, Nagahama Institute of Bio-Science and Technology, Nagahama, Shiga, 526-0829, Japan;1. Clinical Research Institute, Kanagawa Children''s Medical Center, Yokohama, Japan;2. Division of Medical Genetics, Kanagawa Children''s Medical Center, Yokohama, Japan;3. Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan;4. Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan;1. Istanbul University, Istanbul Faculty of Medicine, Pediatric Nephrology Department, Istanbul, Turkey;2. Istanbul University, Istanbul Faculty of Medicine, Department of Medical Genetics, Istanbul, Turkey;3. Kanuni Sultan Suleyman Research and Training Hospital, Pediatric Nephrology Department, Istanbul, Turkey;4. Istanbul University, Istanbul Faculty of Medicine, Pediatric Nutrition and Metabolism Department, Istanbul, Turkey;1. Service de Gynécologie-Obstétrique. AP-HP, Hôpital Antoine Béclère, Université Paris-Sud, Clamart, France;2. The Link Group, Australia;3. Fetal Medicine Center. First Medical Faculty, Charles University and General Teaching Hospital, Prague, Czech Republic;4. Department of Obstetrics, Hospital Universitari, Vall d''Hebron, Barcelona, Catalonia, Spain;5. Department of Obstetrics and Gynecology, University Hospital Brugmann, Université Libre de Bruxelles, Brussels, Belgium;6. Centre for Women''s & Newborn Health, Institute of Metabolism & Systems Research, University of Birmingham and Fetal Medicine Centre, Birmingham Women''s and Children''s Foundation Trust, Birmingham, UK;7. Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost & Colleagues, Martinsried, Germany;8. Università di Roma Tor Vergata, Department of Maternal ad Fetal Medicine, Ospedale Cristo Re, Rome, Italy;9. The First I.M. Sechenov Moscow State Medical University, Department of Obstetrics and Gynecology, Moscow, Russia;10. Prenatal Genetic Diagnosis Unit, Genetic Institute, Tel Aviv Medical Center, Tel Aviv, Israel;1. Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates;2. Pediatric Department, Latifa Hospital, Dubai Health Authority, P.O.Box 4115, Dubai, United Arab Emirates;3. John Curtin School of Medical Research, Australian National University, Canberra, ACT, 2600, Australia;1. Myelin Disorders Clinic, Pediatric Neurology Division, Children''s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran;2. Department of Medical Biotechnology, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran;3. Department of Pediatrics, Division of Pediatric Radiology, Children''s Medical Center, Tehran University of Medical Sciences, Tehran, Iran;4. Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran |
| |
| Abstract: | 10q26 deletion syndrome is caused by a rare chromosomal abnormality, and patients with this syndrome present with an extensive and heterogeneous phenotypic spectrum. Several genes, such as EMX2 and FGFR2, were identified as the cause genital anomalies and facial dysmorphism in 10q26 deletion syndrome. However, the critical region for 10q26 deletion syndrome is not determined and the precise relationships between the causative genes and the phenotypes are still controversial.WD repeat domain 11 (WDR11), located at 10q25–26, was recently identified as a causative gene in hypogonadotropic hypogonadism, but other clinical phenotypes caused by WDR11 variants have not been identified. In this study, we have identified a WDR11 missense mutation, NM_018117.11: c.2108G > A; p.(Arg703Gln); ClinVar accession SCV000852064, in a two-year-old boy with severe growth retardation, ventricular septal defect, and coloboma symptoms. The case suggests that WDR11 is partially responsible for the clinical features of 10q26 deletion syndrome and provides novel insights into the pathophysiology of this syndrome. |
| |
| Keywords: | 10q26 deletion syndrome WD repeat domain 11 Coloboma Growth retardation Congenital heart defects |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
