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.

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A change in the DST gene was 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)

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 DST

Inheritance Pattern Autosomal recessive

Position (hg19) chr6:g.56482137 T>C; chr6:g.56485023 T>C

Transcript NM_001723.7

DNA Change c.6128A>G; c.3809A>G

Protein Change p.Glu2043Gly; p.Lys1270Arg

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