Differences in sex development

Gene: DMRT1

I don't know

Variants affecting DMRT1 have been reported in cases with 46,XY disorders/differences of sex development. PMID: 24934491 reports NM_021951.3(DMRT1):c.671A>G (p.Asn224Ser) in 2 unrelated azoospermic men with complete bilateral Sertoli cell-only syndrome and decreased testicular volume by ultrasound. PMID: 26139570 reports NM_021951.2 c.-223_-219CGAAA>T in the promoter of DMRT1, which is a region shown to be involved in the repression of Dmrt1 expression in rat and mouse Sertoli cells (PMID:11870074). Therefore this promoter variants could result in disruption of DMRT1 regulation. PMID: 39936125 reports four different deletions, which all encompass the DMRT1 region (9p24.3p23 - 9p24) in four unrelated cases with gonadal dysgenesis and .

Created: 17 Mar 2025, 11:24 a.m. | Last Modified: 17 Mar 2025, 11:24 a.m.

Panel Version: 4.11

Comment on publications: PMID: 39936125 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.

Created: 17 Mar 2025, 11:14 a.m. | Last Modified: 17 Mar 2025, 11:14 a.m.

Panel Version: 4.11

Comment when marking as ready: Not associated with phenotype in OMIM or G2P. Probably involved in spermatogenesis, (from animal studies), but so far too few variants reported.

Created: 1 Nov 2016, 2:04 p.m.

Red List (low evidence)

Very rare cause of gonadal dysgenesis. More often due to monosomic deletion of Chr 9. Point mutants may have dominant negative effect.

Created: 4 Feb 2016, 4:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted