MYH7

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.

Date of Report

Aug 25, 2017

Full Name

Myosin heavy chain 7

Location
Chromosome 14 (14q11.2)


Function

The MYH7 gene codes for the beta myosin heavy chain protein, which is found in heart and skeletal muscle (Genetics Home Reference).

Database Links

GeneCards: GC14M023412

Genetics Home Reference: MYH7 gene

NCBI Gene: 4625

OMIM: 160760

UniProtKB/Swiss-Prot: 12883

Clinical Significance

A change in the MYH7 gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this patient.

The participant, a 16-year-old female with progressive muscle weakness was found to carry the following genetic change in the MYH7 gene: c.5647G>A/ p.Glu1883Lys.

Gene MYH7
Inheritance Pattern Autosomal dominant/Autosomal recessive
Position chr14:23883224
Transcript NM_000257
DNA Change c.5647G>A
Protein Change p.Glu1883Lys

At the age of 8, the patient started having difficulty climbing at school. She was unable to pull herself onto a horse, get into the car, and walked differently than other children. At age 9, her CK level was high (around 11,000). Muscle biopsies showed mild muscle disease (myopathy) without inflammation and an MRI showed muscle inflammation (myositis) in the pelvis, thigh, and calves. Genetic testing for a number of muscular dystrophies was negative. The patient now routinely uses a wheelchair and has weakness in her upper body.

The patient also has shallow breathing at night (exertional dyspnea) and difficulty swallowing (dysphagia). These are thought to be due to her muscle weakness. Some of her other symptoms include shrinking muscle fibers (muscle fiber atrophy) and abnormal electrical activity in her muscles (myopathic abnormalities).

Some of her other features include:

  • Respiratory insufficiency due to muscle weakness
  • Abnormal walk (waddling gait)
  • Abnormal enzyme activity (abnormal lactate dehydrogenase activity)
  • Increased muscle enzyme level (elevated aldolase level)
  • Abnormal liver enzymes (elevated hepatic transaminases)
  • Involuntary urination (urinary incontinence)
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