Amish, Mennonite, and Hutterite
Genetic Disorder Database

Galloway-Mowat syndrome

Disorder
OMIM #: #251300  (Click to access OMIM database)
Disorder: Galloway-Mowat syndrome 
Also known as: MICROCEPHALY, HIATAL HERNIA, AND NEPHROTIC SYNDROME GALLOWAY SYNDROME NEPHROSIS-NEURONAL DYSMIGRATION SYNDROME NEPHROSIS-MICROCEPHALY SYNDROME 
Clinical
Phenotype: microcephaly, nephrotic syndrome, visual impariment, stagnant psychomotor development 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: WDR73
Base Change: c.888delT
Amino Acid Change: p.Phe296Leufs*26
2   Amish  
Gene: WDR73
Base Change: c.766dupC
Amino Acid Change: p.Arg256Profs*18
3   Amish  
Gene: WHAMM
Base Change: c.1264_1270delATAAAAG
Amino Acid Change:
Last updated: 2017-12-19 

References
Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, Smith JD, Tran L, Al Turki S, Chioza BA, Cross H, Harlalka GV, Hurles ME, Maroofian R, Heaps AD, Morton MC, Stempak L, Hildebrandt F, Sadowski CE. (2015) Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain Aug;138(Pt 8):2173-90.
PubMed ID: 26070982 
Mathiowetz AJ, Baple E, Russo AJ, Coulter AM, Carrano E, Brown JD, Jinks RN, Crosby AH, Campellone KG. (2017) An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway. Mol Biol Cell Sep 15;28(19):2492-2507.
PubMed ID: 28720660 

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