Galloway Mowat syndrome

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Galloway Mowat syndrome
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
Autosomal recessive - en.svg
Galloway Mowat syndrome has an autosomal recessive pattern of inheritance.
Classification and external resources
ICD-10 Q04.3
OMIM 251300
DiseasesDB 31334
MeSH C537548
Orphanet 2065

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]

Genetics[edit]

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[edit]

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]

The biochemical lesion appears to be in the Kinase, Endopeptidase and Other Proteins of small Size (KEOPS)/Endopeptidase-like and Kinase associated to transcribed Chromatin (EKC) (KEOPS/EKC) complex.[4] Sequencing of genes in 37 cases of this condition revealed muations in the OSGEP, TP53RK, TPRKB and LAGE3 genes all of which encode subunits in the KEOPS complex. Members of this complex are found in bacteria, archaea and eukaryotes and are highly conserved. The function of this complex is still under investigation.

Diagnosis[edit]

Treatment[edit]

References[edit]

  1. ^ a b 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. PMID 8213914. doi:10.1002/ajmg.1320470221. 
  2. ^ Galloway WH, Mowat AP (Dec 1968). "Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs". Journal of Medical Genetics. 5 (4): 319–321. ISSN 0022-2593. PMC 1468664Freely accessible. PMID 5713646. doi:10.1136/jmg.5.4.319. 
  3. ^ 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. PMID 11793093. doi:10.1007/s004670100018. 
  4. ^ Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga K, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F (2017) Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet

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