Galloway Mowat syndrome
|Galloway Mowat syndrome|
|Classification and external resources|
- 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
Galloway Mowat syndrome is an autosomal recessive disorder, 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.
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.
- Cooperstone BG, Friedman A, Kaplan BS (Aug 1993). "Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy" (Free full text). American journal of medical genetics 47 (2): 250–254. doi:10.1002/ajmg.1320470221. PMID 8213914.
- Galloway WH, Mowat AP (Dec 1968). "Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs" (Free full text). Journal of medical genetics 5 (4): 319–321. doi:10.1136/jmg.5.4.319. ISSN 0022-2593. PMC 1468664. PMID 5713646.
- Srivastava T, Whiting JM, Garola RE, Dasouki MJ, Ruotsalainen V, Tryggvason K, Hamed R, Alon US (Dec 2001). "Podocyte proteins in Galloway-Mowat syndrome". Pediatric nephrology (Berlin, Germany) 16 (12): 1022–1029. doi:10.1007/s004670100018. PMID 11793093.