A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.

ABSTRACT:

Background

Nance-Horan Syndrome (NHS) (OMIM: 302350) is a rare X-linked developmental disorder characterized by bilateral congenital cataracts, with occasional dental anomalies, characteristic dysmorphic features, brachymetacarpia and mental retardation. Carrier females exhibit similar manifestations that are less severe than in affected males.

Methods

Here, we report a four-generation Chinese family with multiple affected individuals presenting Nance-Horan Syndrome. Whole-exome sequencing combined with RT-PCR and Sanger sequencing was used to search for a genetic cause underlying the disease phenotype.

Results

Whole-exome sequencing identified in all affected individuals of the family a novel donor splicing site mutation (NM_198270: c.1045 + 2T > A) in intron 4 of th

SUBMITTER: Tian Q 

PROVIDER: S-EPMC5219716 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature