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POMT2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

POMT2 gene

The POMT2 gene provides instructions for an enzyme complex that modifies alpha-dystroglycan, a protein critical for muscle stability and brain development.

Normal Function

The POMT2 gene encodes a component of the protein O-mannosyltransferase (POMT) enzyme complex. This complex adds a sugar molecule (mannose) to alpha-dystroglycan, a process known as glycosylation. Glycosylated alpha-dystroglycan is essential for:

  • Muscle stability: Anchoring the cytoskeleton to the extracellular matrix to protect muscle fibers during contraction.
  • Brain development: Directing the migration of neurons during early development.

Health Conditions Related to Genetic Changes

Walker-Warburg syndrome

Mutations in POMT2 can lead to a nonfunctional POMT enzyme complex, preventing the glycosylation of alpha-dystroglycan. This results in:

  • Severe muscle weakness
  • Cobblestone lissencephaly: A brain abnormality where neurons migrate past their intended destination, causing the brain surface to appear bumpy and irregular.
  • Eye abnormalities.

Other disorders

Less severe mutations in POMT2 can lead to other forms of muscular dystrophy, such as muscle-eye-brain disease and POMT2-related congenital muscular dystrophy. In these cases, the POMT enzyme complex retains partial function. The severity of the condition generally correlates with the level of alpha-dystroglycan glycosylation; lower levels of glycosylation result in more severe symptoms.

Other Names for This Gene

  • dolichyl-phosphate-mannose--protein mannosyltransferase 2
  • LGMD2N
  • MDDGA2
  • MDDGB2
  • MDDGC2
  • POMT2_HUMAN
  • protein O-mannosyl-transferase 2
  • protein-O-mannosyltransferase 2

Frequently Asked Questions

POMT2-related disorders are typically inherited in an autosomal recessive pattern. This means that both parents must carry a copy of the altered gene for their child to be affected, and they usually do not show symptoms themselves. Genetic counseling is highly recommended for families with an affected child to understand the inheritance pattern, assess recurrence risk for future pregnancies, and discuss options for family planning and prenatal diagnosis.
The severity of POMT2-related conditions varies widely, from severe Walker-Warburg syndrome to milder forms of congenital muscular dystrophy. This depends on how much residual function the POMT enzyme complex retains. Cobblestone lissencephaly is a severe brain malformation where neurons migrate past their intended destination, causing an irregular, bumpy brain surface. This typically leads to profound intellectual disability, severe seizures, and significant motor impairment, often resulting in a very limited life expectancy.
The earliest signs often appear at birth or in early infancy and can include severe muscle weakness (hypotonia or "floppy baby" syndrome), feeding difficulties, and respiratory problems. Brain abnormalities like cobblestone lissencephaly can lead to seizures and profound developmental delay. Eye abnormalities, such as microphthalmia or cataracts, may also be present.
Currently, there is no cure for POMT2-related muscular dystrophies. Treatment focuses on supportive care to manage symptoms and improve quality of life. This includes physical and occupational therapy to maintain muscle function and prevent contractures, respiratory support for breathing difficulties, nutritional support for feeding issues, and medications to control seizures. Regular monitoring by a multidisciplinary team is essential.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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