Journal article

Publication year: 2016

Pages: 197-201

Journal: Neuropediatrics

Volume number: 47

Issue number: 3

ISSN: 0174-304X

eISSN: 1439-1899

DOI Link: https://doi.org/10.1055/s-0036-1579785

Publisher: Thieme Publishing / Georg Thieme Verlag

Abstract: 
Chudley-McCullough syndrome (CMS) is a rare autosomal recessive disorder characterized by sensorineural deafness, agenesis of the corpus callosum, frontal polymicrogyria, interhemispheric cyst, and ventricular enlargement. CMS is caused by mutations in the GPSM2 gene, but until now no more than eight different mutations are on record. We describe two dizygotic twins with a novel homozygous loss-of-function mutation (c. 1093C > T; p.Arg365*). While one child developed hydrocephalus-prompting shunt implantation immediately after birth, the other sibling did not. The combination of sensorineural hearing loss and partial agenesis of the corpus callosum is a highly recognizable clinico-radiological entity that should prompt mutational analysis of the GPSM2 gene.

Harvard Citation style: Koenigstein, K., Gramsch, C., Kolodziej, M., Neubauer, B., Weber, A., Lechner, S., et al. (2016) Chudley-McCullough Syndrome: Variable Clinical Picture in Twins with a Novel GPSM2 Mutation, Neuropediatrics, 47(3), pp. 197-201. https://doi.org/10.1055/s-0036-1579785

APA Citation style: Koenigstein, K., Gramsch, C., Kolodziej, M., Neubauer, B., Weber, A., Lechner, S., & Hahn, A. (2016). Chudley-McCullough Syndrome: Variable Clinical Picture in Twins with a Novel GPSM2 Mutation. Neuropediatrics. 47(3), 197-201. https://doi.org/10.1055/s-0036-1579785