A Novel Mutation p.S93R in CRYBB1 Associated with Dominant Congenital Cataract and Microphthalmia.
Curr Eye Res
; 45(4): 483-489, 2020 04.
Article
en En
| MEDLINE
| ID: mdl-31566446
ABSTRACT
Purpose:
To identify the pathogenetic mutations in a four-generation Chinese family with dominant congenital cataracts and microphthalmia.Methods:
A four-generation Chinese family with dominant congenital cataracts were recruited. Genomic DNAs were collected from their peripheral blood leukocytes and subjected to whole exome sequencing. The genetic mutations were identified by bioinformatic analyses and verified by Sanger sequencing.Results:
Whole exome sequencing revealed a c.279C>G point mutation in the CRYBB1 gene which was further verified by Sanger sequencing. The nucleotide replacement results in a novel mutation p.S93R in a conserved residue of ßB1 crystallin which is predicted to disrupt normal ßB1 structure and function.Conclusions:
We identified a novel missense mutation p.S93R in CRYBB1 in a Chinese family with autosomal dominant congenital cataracts and microphthalmia. This serine residue is extremely conserved evolutionarily in more than 50 ßγ-crystallins of many species. These data will be very helpful to further understand the structural and functional features of crystallins.Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Catarata
/
ADN
/
Microftalmía
/
Cadena B de beta-Cristalina
/
Mutación
Tipo de estudio:
Risk_factors_studies
Límite:
Female
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Curr Eye Res
Año:
2020
Tipo del documento:
Article
País de afiliación:
China