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Article

A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family.

Molecular vision - 1 Jan 2013

Wang Han, Zhang Tianxiao, Wu Di, Zhang Jinsong

Abstract excerpt

PURPOSE: To identify the disease-causing mutation in a five-generation Chinese family affected with bilateral congenital nuclear cataract. METHODS: Linkage analysis was performed for the known candidate genes and whole-exome sequencing was used in two affected family members to screen for potential genetic mutations; Sanger sequencing was used to verify the mutations throughout family. RESULTS: A novel beaded...

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Identifiers

PMID: 24379646
PMCID: PMC3874047

Genes

BFSP1

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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