A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex.

Abstract:

:We describe an African American family with Hoyeraal-Hreidarrson syndrome (HHS) in which 2 TERT mutations (causing P530L and A880T amino acid changes) and two in the DKC1 variants (G486R and A487A) were segregating. Both genes are associated with dyskeratosis congenita and HHS. It was important to determine the importance of these mutations in disease pathogenesis to counsel family members. From genetic analysis of family members, telomere length and X-inactivation studies we concluded that compound heterozygosity for the TERT mutations was the major cause of HHS and the DKC1 G486R variant is a rare African variant unlikely to cause disease.

journal_name

Pediatr Blood Cancer

journal_title

Pediatric blood & cancer

authors

Vogiatzi P,Perdigones N,Mason PJ,Wilson DB,Bessler M

doi

10.1002/pbc.24389

subject

Has Abstract

pub_date

2013-06-01 00:00:00

pages

E4-6

issue

6

eissn

1545-5009

issn

1545-5017

journal_volume

60

pub_type

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