ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000009.11) (NC_000009.12)
  • Haploinsufficiency score: 2
  • Strength of Evidence (disclaimer): Some evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
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.

Haploinsufficiency phenotype comments:

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).

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

No evidence was identified supporting or refuting triplosensitivity for this gene.