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GPSM 2 and Chudley– M c C ullough Syndrome: A Dutch Founder Variant Brought to North America
Author(s) -
Almomani Rowida,
Sun Yu,
Aten Emmelien,
HilhorstHofstee Yvonne,
PeetersScholte Cacha M.P.C.D.,
van Haeringen Arie,
Hendriks Yvonne M.C.,
den Dunnen Johan T.,
Breuning Martijn H.,
Kriek Marjolein,
Santen Gijs W.E.
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35808
Subject(s) - frameshift mutation , founder effect , haplotype , exome sequencing , genealogy , genetics , genetic variants , dna sequencing , biology , evolutionary biology , history , mutation , gene , allele , genotype
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.