Telomerase insufficiency induced telomere erosion accumulation in successive generations in dyskeratosis congenita family.

ABSTRACT:

Background

Dyskeratosis congenita (DC) is a rare heritable bone marrow failure syndrome that is associated with telomere dysfunction, and has high genetic heterogeneity and varied features.

Objective

This study aimed to identify the underlying genetic etiology of a DC family with more severe symptoms in the younger generation and to explore the relationship between the genetic causes and the severity of DC phenotype.

Methods

Whole-exome sequencing was performed on the proband to screen the candidate causative gene. The protein structure was then predicted by SWISS-MODEL software. Telomere length (TL) assay was performed on family members along with large-scale population controls. The prenatal diagnosis (PND) was performed on the fetus of parents with secondary pregna

SUBMITTER: He C 

PROVIDER: S-EPMC6625126 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature