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Article

A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family.

PloS one - 1 Jan 2015

Zhuang Xiaotong, Wang Lianqing, Song Zixun, Xiao Wei

Abstract excerpt

OBJECTIVE: To investigate a novel insertion variant of CRYGD identified in a Chinese family with nuclear congenital cataract. METHODS: A Chinese family with congenital nuclear cataract was recruited for the mutational screening of candidate genes by direct sequencing. Recombinant N-terminal Myc tagged wildtype or mutant CRYGD was expressed in HEK293T cells. The expression pattern, protein solubility and...

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Identifiers

PMID: 26147294
DOI: 10.1371/journal.pone.0131471
PMCID: PMC4493073

Genes

CRYGD

Variants

Provenance

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A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family.PMID 26147294Read ↗

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A R54L mutation of CRYAA associated with autosomal dominant nuclear cataracts in a Chinese family.Semantic proximity Read ↗

A novel missense mutation of CRYBB1 causes congenital cataract in a Chinese family.Semantic proximity Read ↗

A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea.Semantic proximity Read ↗

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A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.Semantic proximity Read ↗

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