TITLE:
Does DKC1 Mutation Suffice to Define the Phenotype Severity of Hoyeraal-Hreidarsson Syndrome?
AUTHORS:
Elvis Terci Valera, María Sol Brassesco, Sabrine Teixeira Ferraz, Pérsio Roxo Jr., Barbara Lemos-Santana, Tom Vulliamy, Rodrigo Tocantins Calado, Carlos Alberto Scrideli, Luiz Gonzaga Tone
KEYWORDS:
DKC1 Mutation; Dyskeratosis Congenital; Hoyeraal-Hreidarsson Syndrome; Bone Marrow Failure
JOURNAL NAME:
Open Journal of Blood Diseases,
Vol.3 No.1,
March
29,
2013
ABSTRACT: Both
dyskeratosis congenita (DC) and Hoyeraal-Hreidarsson Syndrome (HHS) are rare
inherited bone marrow failure conditions. HHS is considered to be a variant of
DC in which neurological deficits and immunodeficiencies are also present. We
describe a very interesting familial cluster where an invariant point mutation
of DKC1 located in the exon 11 is
observed in the carrier mother and in two decedent males. The older child
developed the classical phenotype of HHS at a very early age. The second
affected child remains poorly symptomatic, with only mild haematological
changes. Telomere shortening, with different severity, is also present in both
cases. This paper discusses the clinical spectrum of inherited BM failure
syndromes from the perspective different clinical presentation within a family
with a DKC1 mutation.