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DST

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.

Compound heterozygous changes in the DST gene were identified in a UDN participant with gross motor delay, language impairment (aphasia), and autism.

Date of Report

Dec 08, 2023

Full Name

Dystonin

Location
Chromosome 6 (6p12.1)
Location Image

Function

The DST gene encodes dystonin, a protein that is a member of the plakin family of proteins, which bridge the cytoskeletal filament networks. Different DST transcripts are expressed in the central nervous system, muscle, and skin (Edvardson et al, 2012).

Database Links

GeneCards: DST

NCBI Gene: 667

OMIM: 113810

UniProtKB/Swiss-Prot: Q03001

Clinical Significance

Compound heterozygous changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.

Gene Inheritance Position (hg19) Transcript DNA Change Protein Change
DST Autosomal recessive chr6:g.56482137 T>C; chr6:g.56485023 T>C NM_001723.7 c.6128A>G; c.3809A>G p.Glu2043Gly; p.Lys1270Arg
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