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Article

Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract.

International journal of molecular sciences - 22 Nov 2023

Delas Flora, Koller Samuel, Feil Silke, Dacheva Ivanka, Gerth-Kahlert Christina, Berger Wolfgang

Abstract excerpt

Congenital cataract (CC), the most prevalent cause of childhood blindness and amblyopia, necessitates prompt and precise genetic diagnosis. The objective of this study is to identify the underlying genetic cause in a Swiss patient with isolated CC. Whole exome sequencing (WES) and copy number variation (CNV) analysis were conducted for variant identification in a patient born with a total binocular CC without a...

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Identifiers

PMID: 38068917
DOI: 10.3390/ijms242316594
PMCID: PMC10706789

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