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GENATLAS PHENOTYPE |
last update : 28-03-2012 |
Symbol | DEL2Q23 |
Location | 2q23.1 |
Name | chromosome 2q23.1 interstitial deletion |
Corresponding gene | MBD5 |
Other symbol(s) | DUP2Q23 |
Main clinical features |
|
Genetic determination | chromosomal |
Prevalence | 65 subjects with microdeletion or translocation of chromosomal region 2q23.1 |
Function/system disorder | mental retardation |
multisystem/generalized | |
Type | MCA/MR |
Gene product |
Name | epigenetic regulator |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
|  
| deletion
| haploinsufficiency
| from >4 Mb to <200 kb, minimal critical region including a single gene, MBD5, deleted in all cases, whereas all but one case also include deletion of EPC2
|  
| deletion
|  
| ranged in size from 38 kb to greater than 19 Mb PMID: 21981781
| |
Remark(s) | expression profiles and clinical characteristics were largely indistinguishable between MBD5-specific alteration and deletion of the entire 2q23.1 interval |
Genotype/Phenotype correlations | two patients with developmental delay, hypotonia, and autistic features associated with duplications of 2q23.1 PMID: 22085900;; |