Galloway Mowat syndrome

Galloway Mowat syndrome is a very rare autosomal recessive^[1] genetic disorder, consisting of a variety of features including hiatal hernia, microcephaly and nephrotic syndrome.^[2]

Synonyms

• Galloway Syndrome
• Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type
• Microcephaly-Hiatal Hernia-Nephrosis, Galloway Type
• Nephrosis-Microcephaly Syndrome
• Nephrosis-Neuronal Dysmigration Syndrome
• Microcephaly-Hiatal Hernia-Nephrotic Syndrome

Genetics

Galloway Mowat syndrome has an autosomal recessive pattern of inheritance.

Galloway Mowat syndrome is an autosomal recessive disorder,^[1] which means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

Cause

The exact genetic defect in Galloway Mowat syndrome is yet to be discovered. However, mutations in podocyte proteins, such as nephrin, alpha-actinin 4, and podocin, are associated with proteinuria and nephrotic syndrome. There is reduced expression of synaptopodin, GLEPP1, and nephrin in Galloway-Mowat syndrome, but these are likely secondary to the proteinuria, likely not the proteins mutated in Galloway-Mowat syndrome.^[3]

References

External links

• WebMD article
• Microcephaly, hiatal hernia and nephrotic syndrome at NIH's Office of Rare Diseases