Article
Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree.
Molecular genetics & genomic medicine - 1 Jan 2024
Jiang Keke, Wang Shuying, Sun Huixin, Peng Chuanzhi, Li Nan, Li Shuchan, Gao Rongyu, Zhang Jie
Abstract excerpt
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...
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