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Article

Novel compound heterozygous variant of GJA8 gene in two siblings with congenital cataract mimics an autosomal recessive trait.

European journal of ophthalmology - 1 Sept 2023

Lin Yunting, Chen Xiaodan, Liang Cuili, Li Duan, Liu Li, Li Xiuzhen

Abstract excerpt

BACKGROUND: GJA8 gene is known to cause autosomal dominant congenital cataract. Here we report a novel compound heterozygous variant of GJA8 gene in two siblings that mimics an autosomal recessive trait. PATIENTS AND METHODS: Two siblings from a non-consanguineous Chinese family suffered from isolated congenital cataract. Whole exome sequencing was performed to identify disease-causing variants followed by a...

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PMID: 36262071
DOI: 10.1177/11206721221132874

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