Rowida Almomani and Yu Sun contributed equally to this work.
GPSM2 and Chudley–McCullough Syndrome: A Dutch Founder Variant Brought to North America
Article first published online: 13 MAR 2013
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 5, pages 973–976, May 2013
How to Cite
2012. GPSM2 and Chudley–McCullough syndrome: A Dutch founder variant brought to North America. Am J Med Genet Part A 161A:973–976., , , , , , , , , , .
- Issue published online: 22 APR 2013
- Article first published online: 13 MAR 2013
- Manuscript Accepted: 18 NOV 2012
- Manuscript Received: 29 SEP 2012
- China Scholarship Council
- NMD-chip. Grant Number: 223026
- TechGene. Grant Number: 223143
- syndromic hearing loss;
- exome sequencing;
- Chudley–McCullough syndrome
Chudley–McCullough syndrome (CMS) is characterized by profound sensorineural hearing loss and brain anomalies. Variants in GPSM2 have recently been reported as a cause of CMS by Doherty et al. In this study we have performed exome sequencing of three CMS patients from two unrelated families from the same Dutch village. We identified one homozygous frameshift GPSM2 variants c.1473delG in all patients. We show that this variant arises from a shared, rare haplotype. Since the c.1473delG variant was found in Mennonite settlers, it likely originated in Europe. To support DNA diagnostics, we established an LOVD database for GPSM2 containing all variants thus far described. © 2013 Wiley Periodicals, Inc.