Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree.

ABSTRACT:

Purpose

Norrie disease (ND) is a rare X-linked recessive disorder characteristic of early childhood blindness. While several mutations in the NDP gene have been reported as causative for ND, the genetic etiology remains unknown for many patients. This study aims to describe a novel mutation and explore the clinical manifestations in a Chinese family with two affected males.

Methods

Exome sequencing (ES) was employed to identify the causative gene in a four-generation pedigree. Sanger sequencing was subsequently utilized to validate the mutation detected by ES in additional family members. Ophthalmologic examination and diagnostic imaging relevant to ND were conducted.

Results

The proband (IV:2), an 8-month-old male infant, presented with binocular retinal detachment.

SUBMITTER: Jiang K 

PROVIDER: S-EPMC10767683 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature