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| GENATLAS PHENOTYPE |
| last update : 11/04/07 |
| Symbol | DIS |
| Location | 15q15.3 |
| Name | deafness-infertility syndrome |
| Other name(s) | syndromic male infertility chromosome 15q15.3 microdeletion syndrome |
| Corresponding gene | STRC , CATSPER2 |
| Other symbol(s) | DEL15Q15.3, SMI |
| Main clinical features |
|
| Genetic determination | autosomal recessive |
| chromosomal | |
| genomic disorder | |
| Prevalence | 4 families described |
| Related entries | DFNB16 |
| Function/system disorder | ear |
| endocrinology | |
| Type | disease |
| Gene product |
| Name | contiguous gene syndrome involving four genes KIAAO377, CKMT1B, STRC and CASTPER2, three of which having a highly homologous telomeric pseudo-copy |
| Mechanism(s) |
| Gene mutation | Chromosome rearrangement | Effect | Comments | |
|---|---|---|---|---|
| deletion | about 100kb long within a large tandem repeat which is prone to rearrangement |
| Remark(s) |