Amish, Mennonite, and Hutterite
Genetic Disorder Database

Chudley-McCullough Syndrome

Disorder
OMIM #: #604213  (Click to access OMIM database)
Disorder: Chudley-McCullough Syndrome 
Also known as: DEAFNESS, SENSORINEURAL, WITH PARTIAL AGENESIS OF THE CORPUS CALLOSUM AND ARACHNOID CYSTS, DEAFNESS, BILATERAL SENSORINEURAL, AND HYDROCEPHALUS DUE TO FORAMEN OF MONRO OBSTRUCTION 
Clinical
Phenotype: hearing impairment, hydrocephalus due to obstruction of the foramen of Munro, callosal dysgenesis, gray matter heterotopia, cortical dysplasia, cerebellar dysgenesis 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Colony Mennonite  
Gene: GPSM2
Base Change: c.742delC
Amino Acid Change:
2   Old Colony Mennonite  
Gene: GPSM2
Base Change: c.1473delG
Amino Acid Change:
Last updated: 2018-01-03 

References
Almomani R, Sun Y, Aten E, Hilhorst-Hofstee Y, Peeters-Scholte CM, van Haeringen A, Hendriks YM, den Dunnen JT, Breuning MH, Kriek M, Santen GW. (2013) GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America. Am J Med Genet A May;161A(5):973-6.
PubMed ID: 23494849 
Chudley AE, McCullough C, and McCullough DW. (1997) Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder. Am J Hum Genet 68(3): 350-356.
PubMed ID: 9024571 
Doherty D, Chudley AE, Coghlan G, Ishak GE, Innes AM, Lemire EG, Rogers RC, Mhanni AA, Phelps IG, Jones SJ, Zhan SH, Fejes AP, Shahin H, Kanaan M, Akay H, Tekin M; FORGE Canada Consortium, Triggs-Raine B, Zelinski T. (2012) GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. Am J Hum Genet Jun 8;90(6):1088-93.
PubMed ID: 22578326 
Lemire EG and Stoeber GP. (2000) Chudley-McCullough syndrome: bilateral sensorineural deafness, hydrocephalus, and other structural brain abnormalities. Am J Hum Genet 90(2): 127-130.
PubMed ID: 10607951 

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