SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay
| Autor: | Pawel Stankiewicz, Va Lip, Gerald F. Cox, Alcy Torres, Bai-Lin Wu, Xiaoming Sheng, Laura Weissman, Peter Raffalli, Ankita Patel, Yiping Shen, Yu An, Sami S. Amr, Weimin Bi |
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| Rok vydání: | 2013 |
| Předmět: |
Genetics
Male Candidate gene Comparative Genomic Hybridization Adolescent Microarray analysis techniques Genome Human Developmental Disabilities Chromosomes Human Pair 20 Membrane Proteins Biology Subtelomere SOXC Transcription Factors Cellular and Molecular Neuroscience Psychiatry and Mental health Child Preschool Humans Female Genetic Predisposition to Disease Chromosome Deletion Child Gene Genetics (clinical) Genetic Association Studies |
| Zdroj: | American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. (8) |
| ISSN: | 1552-485X |
| Popis: | 20p13 telomeric/subtelomeric deletions are clinically significant but are currently under-investigated. So far only five molecularly delineated cases have been reported in literature and no candidate genes have been sufficiently implicated. Here, we present six new deletion cases identified by chromosomal microarray analysis (CMA). We also review 32 cases combined from literature and databases. We found that most 20p13 deletion patients exhibit significant developmental delay. Dysmorphic features are common but a consistent pattern was not recognized. Reduced cognitive ability was frequent. Based on pathogenic deletions delineated in this study, we mapped the smallest overlapping region and identified two nervous system expressing genes (SOX12 and NRSN2) as candidate genes that may be involved in the developmental defects in 20p13 microdeletion. |
| Databáze: | OpenAIRE |
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