Article
GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America.
American journal of medical genetics. Part A - 1 May 2013
Almomani Rowida, Sun Yu, Aten Emmelien, Hilhorst-Hofstee Yvonne, Peeters-Scholte 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
Abstract excerpt
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...
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