Galloway-Mowat syndrome

Disorder
OMIM #:	#251300 (Click to access OMIM database)
Disorder:	Galloway-Mowat syndrome
Also known as:	YODER DYSTONIA NEPHROCEREBELLAR SYNDROME MICROCEPHALY, HIATAL HERNIA, AND NEPHROTIC SYNDROME GALLOWAY SYNDROME NEPHROSIS-NEURONAL DYSMIGRATION SYNDROME NEPHROSIS-MICROCEPHALY SYNDROME
Clinical
Phenotype:	short stature, microcephaly, micrognathia, midfacial hypoplasia, visual impariment, microphtalmia, epicanthal folds, ptosis, strabismus, corneal opacity, optic atrophy, motor delay, nephrotic syndrome, proteinuria, renal insufficiency, other kidney defects, camptodactyly, other skeletal defects, developmental delay, other central nervous system abnormalities, oligohydramnios
Seen In:	Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite
Remarks:	Autosomal recessive
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:	2022-11-04

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

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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