MYH8

On this page, you will find information about genetic changes that were 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.

Changes in this gene were identified in a female, age 3 with limited joint movement (arthrogryposis) and low muscle tone (hypotonia) (read full description).

Date of Report

Aug 12, 2019

Full Name

myosin heavy chain 8

Location
Chromosome 17 (17p13.1)


Function

The MYH8 gene is one of a group of genes that code for myosin heavy chains that, along with myosin light chains, make up the myosin molecule. The myosin molecule is important for skeletal muscle contraction. (Veugelers et al., 2004; NCBI Gene)

Database Links

GeneCards: GC17M010390

Genetics Home Reference: MYH8

NCBI Gene: 4626

OMIM: 160741

UniProtKB/Swiss-Prot: P13535

Clinical Significance

A change in the MYH8 gene has been associated with trismus-pseudocamptodactyly syndrome, also called arthrogryposis, distal, 7 (DA7) (Veugelers et al., 2004). This condition is inherited in an autosomal dominant (AD) fashion and is associated with congenital joint contractures.

Changes in this gene were also identified in a UDN participant. Clinicians and researchers do not believe trismus-pseudocamptodactyly syndrome is the explanation for the participant’s presentation, therefore research is still underway.

Gene MYH8
Inheritance Pattern Autosomal recessive
Position chr17:g.10297616; chr17:g.10318859
Transcript NM_002472
DNA Change c.5116G>A; c.578G>A
Protein Change p.E1706K; p.R193H
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