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, ventriculomegaly, obstruction of the foramen of Monro, callosal dysgenesis, gray matter heterotopia, cortical dysplasia, cerebellar dysgenesis, polymicrogyria, arachnoid cysts |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| 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: | 2022-11-03 |
| 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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