Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population. (5th September 2014)

• Record Type: Journal Article
• Authors: Fedick, A.M.; Shi, L.; Jalas, C.; Treff, N.R.; Ekstein, J.; Kornreich, R.; Edelmann, L.; Mehta, L.; Savage, S.A.
• Is Part Of: Clinical genetics. Volume 88:Number 2(2015:Aug.)
• Page Start: 177
• Page End: 181
• Publication Date: 2014-09-05
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12459
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main" id="cge12459-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="cge12459-para-0001">Hoyeraal–Hreidarsson syndrome (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by cerebellar hypoplasia, microcephaly, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC. Germline mutations in the <italic>RTEL1</italic> gene have recently been identified as causative of HH. In this study, the carrier frequency for five <italic>RTEL1</italic> mutations that occurred in individuals of Ashkenazi Jewish descent was investigated in order to advise on including them in existing clinical mutation panels for this population. Our screening showed that the carrier frequency for c.3791G&gt;A (p.R1264H) was higher than expected, 1% in the Ashkenazi Orthodox and 0.45% in the general Ashkenazi Jewish population. Haplotype analyses suggested the presence of a common founder. We recommend that the c.3791G&gt;A <italic>RTEL1</italic> mutation be considered for inclusion in carrier screening panels in the Ashkenazi population.</p> </abstract>