MEGF10 is a human protein-coding gene whose name stands for multiple EGF-like domains 10. It is located on chromosome 5 at 5q23.2 and is associated with MEGF10-related myopathy, including EMARDD.
Older wording on some imported pages placed MEGF10 on chromosome 3p25.3. That is not correct. Current NCBI records place MEGF10 on chromosome 5q23.2.
Gene and Protein
MEGF10 encodes a transmembrane protein with multiple epidermal growth factor-like domains. These domains are involved in protein interactions and are part of the reason the protein is grouped with other EGF-domain-containing proteins.
NCBI's Genetic Testing Registry lists MEGF10 as a protein-coding gene on chromosome 5, with 31 exons in the current reference record. The gene has several transcript isoforms.
Biological Role
MEGF10 is studied mainly for its role in muscle development and maintenance. Published work links the gene to satellite cell myogenesis, a process involving muscle precursor cells that helps build and repair skeletal muscle.
The gene has also been studied in other biological contexts, including cell clearance and nervous-system biology, but its clearest clinical relevance on iWiki is its role in congenital muscle disease.
MEGF10-Related Myopathy
Biallelic pathogenic variants in MEGF10 can cause MEGF10-related myopathy. The best-known severe form is early-onset myopathy, areflexia, respiratory distress and dysphagia, usually shortened to EMARDD.
Typical features can include early muscle weakness, low muscle tone, absent or reduced reflexes, breathing difficulty, swallowing problems, scoliosis and delayed motor milestones. Severity varies. Some affected people need ventilatory support early in life, while milder presentations may progress more slowly.
The inheritance pattern is autosomal recessive. This means an affected person usually has pathogenic variants in both copies of MEGF10, with parents often being unaffected carriers.
Diagnosis
Diagnosis is based on clinical findings and genetic testing. A neuromuscular team may also use muscle biopsy, electromyography, respiratory assessment, swallowing assessment and imaging when building the diagnosis.
Genetic testing can confirm MEGF10 involvement, but results need specialist interpretation. The clinical picture matters because many congenital myopathies can overlap in early symptoms.
Management
There is no established cure for MEGF10-related myopathy. Care is supportive and usually multidisciplinary.
Management may include respiratory support, feeding and swallowing support, physiotherapy, occupational therapy, orthopaedic care for scoliosis or contractures, nutrition support and genetic counselling.
Research
Research on MEGF10 remains limited because the condition is rare. Case reports and small series have expanded the recognised range of MEGF10-related disease, including milder forms as well as severe infantile disease.
See Also
References
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