A novel base substitution mutation of the CRYBA2 gene is associated with autosomal dominant congenital cataract.
Gene
; 927: 148726, 2024 Nov 15.
Article
en En
| MEDLINE
| ID: mdl-38909969
ABSTRACT
Congenital cataract is one of the leading causes of vision loss in children, and a large proportion of cases are related to genetics. In a Chinese family, we reported a new missense mutation in CRYBA2 (c.223T>C p.Tyr75His), which can cause autosomal dominant congenital bilateral cataract. We collected blood samples from family members (mother and two sons) and extracted DNA. Through whole-exome sequencing, we discovered a novel unreported mutation. According to relevant ACMG guidelines, this mutation was determined to be a variant of unknown clinical significance. This article further expands the site information on the CRYBA2 mutations.
Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Catarata
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Mutación Missense
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Cadena A de beta-Cristalina
Límite:
Female
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Humans
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Male
Idioma:
En
Revista:
Gene
Año:
2024
Tipo del documento:
Article
País de afiliación:
China