PubMed ID | Description |
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20685758 | Ledig et al. (2010): A deletion of exons 1 and 2 of DMRT1 was found in a phenotypic female with an 46, XY chromosome complement (patient 44). DMRT1 deletions were also found in other individuals with gonadal dysgenesis, but these deletions also involved other genes. |
22573722 | Ledig et al. (2012) report a 35 kb deletion of exons 3 and 4 of DMRT1 in a female patient with a 46,XY karyotype. |
DMRT1 is believed to be involved in gonadal development. Deletions in distal 9p have been identified in individuals with gonadal dysgenesis, and DMRT1 has been proposed as a candidate gene (PMID: 10857744, PMID: 10999792, PMID: 11720880, PMID: 21048976). Mello et al (2010): A 3'UTR+11insT, located within a conserved motif important for mRNA stabilization, was found in a 7 month old male with gonadal dysgenesis. No parental followup or functional studies conducted (PMID:21340164). Recently, a prenatal case has been reported with a 0.70-Mb deletion at 9p24.3 and an 18.36-Mb duplication from 9p24.3 to 9p22.1; the deletion did include DMRT1. The fetus, a chromosomal male, was found to have normal male external genitalia on examination after termination at 22 weeks (PMID: 21482378).
No evidence was identified supporting or refuting triplosensitivity for this gene.