DMRTA2

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in this gene was identified in a male, age 3, with global developmental delay, low muscle tone, and feeding difficulties (read full description).

Date of Report

Dec 10, 2019

Full Name

DMRT like family A2

Location

Chromosome 1 (1p32.3)

Function

The DMRTA2 gene codes for the protein Dmrta2 in the Dmrt family of transcription factors. This protein family plays a role in the developing reproductive system. In addition, Dmrta2 also plays a role in the developing brain, specifically the maintenance of neural progenitor cells during cortical development (Young et al., 2017).

Database Links

GeneCards: DMRTA2

NCBI Gene: 63950

OMIM: 614804

UniProtKB/Swiss-Prot: Q96SC8

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene DMRTA2

Inheritance Pattern Autosomal dominant

Position (hg19) chr1:g.50886834C>G

Transcript NM_032110.2

DNA Change c.375G>C

Protein Change p.Glu125Asp

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