| 项目编号 |
PRJCA053385 |
| 项目标题 |
Identification of Co-segregating GJA3 and CRYBA1 Missense Variants in a Chinese Family with Congenital Cataract: A Possible Digenic Etiology |
| 涉及领域 |
Medical |
| 数据类型 |
Raw sequence reads
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| 物种名称 |
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| 描述信息 |
Congenital cataract is an opacity of the lens present at birth or during infancy, representing one of the leading causes of reversible blindness and amblyopia in children. It exhibits a high degree of genetic heterogeneity. To explore the underlying genetic mechanisms, we performed a comprehensive clinical and molecular genetic analysis of a multigenerational Chinese family affected by congenital cataract. Whole-exome sequencing, followed by co-segregation analysis within the pedigree, identified two heterozygous missense variants: GJA3 c.776C>A (p.Ser259Tyr) and CRYBA1 c.346A>T (p.Ile116Phe). Sanger sequencing confirmed that both variants completely co-occurred in all affected family members, consistent with an autosomal dominant inheritance pattern. Conservation analysis and multiple bioinformatic predictions suggested that these variants may impair protein stability and function. The findings indicate that these two variants are strong candidate variants that may jointly contribute to the cataract phenotype in this family. This study expands the known mutational spectrum of congenital cataract and provides new insights into its complex molecular mechanisms, offering valuable implications for genetic diagnosis and counseling. |
| 样品范围 |
Human genome |
| 发布日期 |
2025-12-11 |
| 项目资金来源 |
| 机构 |
项目类型 |
授权项目ID |
授权项目名称 |
| No funding support
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| 提交者 |
xiaoqian
zhang (xiaoqian202307@163.com)
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| 提交单位 |
he Affiliated Eye Hospital, Nanjing Medical University |
| 提交日期 |
2025-12-11 |
