Differences of Sex Development

Gene: DMRT1

I don't know

DMRT1 gene exclusively expressed in male gonads. Thought not to affect ovarian development.
Gene included three international studies - see PMID: 28295047 supplemental article Fig 1
patient 19, 46XY with hypoplastic labia, uterus present had DMRT1 c.251A>G p.Tyr84Cys maternally inherited VOUS identified
missense mutations p.R111G also described in complete gonadal dysgenesis - see PMID: 26005864

Created: 30 Jan 2025, 12:02 a.m. | Last Modified: 30 Jan 2025, 12:02 a.m.

Panel Version: 1.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
http://purl.obolibrary.org/obo/MONDO_0020040

Publications

• PMID: 26005864
• 28295047

Red List (low evidence)

PMID: 31479588 - 1 patient with azoospermia and XY genotype. Also carries an additional variant in KLHL10

PMID: 24934491 - 6 patients with male infertility, however the 4 identified variants were also found in 2 controls and have a high frequency in the population (gnomAD). No functional studies.

PMID: 23555275 - Identifies CNVs in azoospermia patients, calls the gene a risk factor
Sources: Expert list

Created: 15 Jul 2020, 2:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Azoospermia

Publications

• PMID: 31479588
• 24934491
• 29527098