Article
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
PLoS genetics - 1 Aug 2013
Ballew Bari J, Joseph Vijai, De Saurav, Sarek Grzegorz, Vannier Jean-Baptiste, Stracker Travis, Schrader Kasmintan A, Small Trudy N, O'Reilly Richard, Manschreck Chris, Harlan Fleischut Megan M, Zhang Liying, Sullivan John, Stratton Kelly, Yeager Meredith, Jacobs Kevin, Giri Neelam, Alter Blanche P, Boland Joseph, Burdett Laurie, Offit Kenneth, Boulton Simon J, Savage Sharon A, Petrini John H J
Abstract excerpt
Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure and cancer predisposition syndrome in which germline mutations in telomere biology genes account for approximately one-half of known families. Hoyeraal Hreidarsson syndrome (HH) is a clinically severe variant of DC in which patients also have cerebellar hypoplasia and may present with severe immunodeficiency and enteropathy. We...
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