A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly,dysmorphic features and mental retardation |
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| Authors: | Sujana Reddy Natalia Dolzhanskaya Jacquelyn Krogh Milen Velinov |
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| Affiliation: | 1. University of Turku and Turku University Hospital, Division of Clinical Neurosciences, Turku, Finland;2. University of Oulu, Department of Clinical Medicine, Neurology, Oulu, Finland;3. Oulu University Hospital, Department of Neurology, Oulu, Finland;4. Oulu University Hospital, Clinical Research Center, Oulu, Finland;1. Laboratory of Dystrophinopathies, Department of Genetics, School of Pharmacy and Biochemistry, University of Buenos Aires, Buenos Aires, Argentina;2. INGEBI CONICET, Buenos Aires, Argentina;3. Molecular Neurobiology Laboratory, Neurosurgery Division, Hospital de Clínicas “José de San Martín”, University of Buenos Aires, Buenos Aires, Argentina;1. Department of Clinical Nutrition, Xin Hua Hospital, Shanghai Jiao Tong University School of Medicine, 1665 Kongjiang Road, Shanghai 200092, China;2. Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai 200092, China;3. Department of Neonatology, Shanghai Children''s Medical Center, Shanghai Jiao Tong University School of Medicine, 1678 Dongfang Road, Shanghai 200127, China;4. Department of Endocrine and Genetic Metabolism, Shanghai Children''s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China;5. School of Life Sciences & Technology, Shanghai Jiao Tong University, Shanghai 200240, China;6. Faculty of laboratory Medicine, Shanghai Children''s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China;7. Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China;1. Institute of Medical Biology, Genetics and Clinical Genetics, Comenius University, Faculty of Medicine & University Hospital Bratislava, Mickiewiczova 13, 813 69 Bratislava, Slovakia;2. 1st Department of Neurology, Comenius University, Faculty of Medicine & University Hospital Bratislava, Mickiewiczova 13, 813 69 Bratislava, Slovakia;3. M-Genetik, S.R.O., P. Mudroňa, 504/7, 03601 Martin, Slovakia;4. Department of Paediatric Neurology, University Pediatric Hospital, Comenius University, Faculty of Medicine, Limbova 1, 833 40 Bratislava, Slovakia;5. Department of Medical Genetics, University Hospital F.D. Roosvelta, Námestie Ludvíka Svobodu 1, 975 17 Banská Bystrica, Slovakia |
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| Abstract: | A 2.5 years old girl presented with moderate mental retardation, microcephaly, arching eyebrows, low set ears, long eyelashes, persistent fetal pads and clinodactyly. About 1 Mb deletion in the chromosomal region 1q21.3 was identified using BAC array CGH analysis. The parental follow up FISH analysis was normal. Further study of the deletion using a 244K oligo-array of Agilent Technologies Inc., Santa Clara, CA, USA defined the deleted region to span about 1.4 Mb with approximate genomic location chr1:152,511,593-153,993,103 (NCBI genome build 36). This is a novel deletion, not reported to-date. Larger proximal 1q deletions that were previously reported typically included microcephaly, mental retardation and multiple congenital anomalies. The deleted region reported here includes at least 30 coding genes. Among them of interest is a three-gene cluster of the ephrin gene family (EFNA1, EFNA3 and EFNA4). This is a group of receptor protein-tyrosine kinase type genes with presumed, but not completely characterized function in nervous system development. |
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