Identification of a novel single nucleotide deletion in the NHS causing Nance-Horan syndrome.

ABSTRACT:

Background

Nance-Horan syndrome (NHS) is a rare X-linked dominant disorder caused by pathogenic variants in the NHS gene on chromosome Xp22.2-Xp22.13. Clinical manifestations consist of congenital cataracts, along with dysmorphic facial features and dental anomalies and, in certain instances, intellectual disability. This study aimed to identify the genetic cause responsible for NHS in a Chinese family with four individuals primarily presenting with congenital cataracts.

Methods

Genomic DNA was collected from six family members, including four affected individuals (three females and one male) from a two-generation family. The family history and clinical data were documented. Whole-exome sequencing was performed on the proband, and candidate pathogenic variants were filtered

SUBMITTER: Huang T 

PROVIDER: S-EPMC11854407 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature