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Clin Genet. 2015 Aug;88(2):177-81. doi: 10.1111/cge.12459. Epub 2014 Sep 5.

Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.

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Department of Microbiology and Molecular Genetics, Rutgers-Robert Wood Johnson Medical School, Piscataway, NJ, USA.
Reproductive Medicine Associates of New Jersey, Basking Ridge, NJ, USA.
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Bonei Olam, Center for Rare Jewish Genetic Disorders, Brooklyn, NY, USA.
Dor Yeshorim, The Committee for Prevention of Jewish Diseases, Brooklyn, NY, USA.
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.


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 RTEL1 gene have recently been identified as causative of HH. In this study, the carrier frequency for five RTEL1 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>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>A RTEL1 mutation be considered for inclusion in carrier screening panels in the Ashkenazi population.


Ashkenazi Jewish; Hoyeraal-Hreidarsson syndrome; RTEL1; carrier screening; dyskeratosis congenita

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