Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.

ABSTRACT:

Background

Nance-Horan syndrome (NHS) is an X-linked inheritance disorder characterized by bilateral congenital cataracts, and facial and dental dysmorphism. This disorder is caused by mutations in the NHS gene. However, NHS may be difficult to detect in individuals with subtle facial dysmorphism and dental abnormalities in whom congenital cataracts are the primary clinical manifestations.

Methods

In this study, we present a three-generation family with NHS. Whole exome sequencing was performed to determine the potential pathogenic variant in the proband. Further validation was explored with Sanger sequencing in 9 of the available individuals of the family and additional 200 controls.

Results

A novel truncation mutation in gene NHS (c.C4449G, p.Tyr1483Ter) was found i

SUBMITTER: Ling C 

PROVIDER: S-EPMC6332535 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature