Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II.

ABSTRACT:

Background

Mucopolysaccharidosis type II (MPS II) is an X-linked multisystem disorder caused by mutations in the gene encoding iduronate 2-sulfatase (IDS). The clinical manifestations of MPS II include skeletal deformities, airway obstruction, cardiomyopathy, and neurologic deterioration. MPS II has high genetic heterogeneity disorder, and ~ 658 variants of IDS have been reported.

Methods

We undertook a detailed pedigree analysis of four patients within the same family by targeted next-generation sequencing and Sanger sequencing.

Results

We identified a novel heterozygous frameshift variant, c.1224delC(p.Pro408ProfsTer31), of IDS in three patients. We defined c.1224delC as a pathogenic variant according to the 2015 guidelines set by the American College of Medical Gen

SUBMITTER: Zhang C 

PROVIDER: S-EPMC8247175 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature