Ontology highlight
ABSTRACT:
SUBMITTER: Vogiatzi P
PROVIDER: S-EPMC3860171 | biostudies-literature | 2013 Jun
REPOSITORIES: biostudies-literature
Vogiatzi Paraskevi P Perdigones Nieves N Mason Philip J PJ Wilson David B DB Bessler Monica M
Pediatric blood & cancer 20130117 6
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 comp ...[more]