| H01877 | |
| H number | H01877 |
| Name | Chromosome 15q13.3 microdeletion syndrome |
| Description | Chromosome 15q13.3 microdeletion syndrome causes a spectrum of cognitive disorders. The syndrome is caused by microdeletions in the 15q13.2q-13.3 region. This chromosomal region contains seven genes and is flanked by a breakpoint (BP) on each side. About 80% of patients with this syndrome have one or more neuropsychiatric diagnoses, including developmental disability/intellectual disability, autism spectrum disorder, speech problems, and attention deficit hyperactivity disorder (ADHD). The neuropsychiatric phenotypes of 15q13.3 microdeletion syndrome have been proposed to be caused by haploinsufficiency of CHRNA7, which is one of the seven genes. |
| Category | Chromosomal abnormality |
| Network | - |
| Gene | CHRNA7 [HSA:1139] [KO:K04809] KLF13 [HSA:51621] [KO:K09208] TRPM1 [HSA:4308] [KO:K04976] FAN1 [HSA:22909] [KO:K15363] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Other genes in the critical deleted region: MTMR10, MIR211, OTUD7A |
| Other DBs | ICD-11: LD44.F ICD-10: Q93.5 MeSH: C567439 OMIM: 612001 |
| Reference | PMID:26754479 AUTHORS Crutcher E, Ali M, Harrison J, Sovago J, Gomez-Mancilla B, Schaaf CP TITLE Assessment of Cognitive Outcome Measures in Teenagers with 15q13.3 Microdeletion Syndrome. JOURNAL J Autism Dev Disord 46:1455-63 (2016) DOI:10.1007/s10803-015-2694-0 PMID:24824131 AUTHORS Tropeano M, Andrieux J, Vassos E, Collier DA TITLE Clinical utility gene card for: 15q13.3 microdeletion syndrome. JOURNAL Eur J Hum Genet 22:ejhg201488 (2014) DOI:10.1038/ejhg.2014.88 |