Genetic heterogeneity correlated with phenotypic variability in 6 Chinese families with Alport syndrome
Jinghan Gao, Huan Zhou, Li Zhang, Zihan Su, Shiguo Liu · 2026
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Description
Jinghan Gao and co-authors report genetic findings in six Chinese families with Alport syndrome, published in 2026. The inherited disease damages kidneys and often brings hearing loss and eye changes. Symptoms vary widely, which makes matching gene faults to outcomes difficult.
Whole-exome sequencing followed by confirmatory testing found seven variants across the families. Inheritance patterns included dominant, recessive, and X-linked forms of collagen gene faults. Four of the changes had not been reported before. One new variant was tested in kidney cells, where it lowered gene message levels and weakened cell movement. The authors say the results widen the known spectrum and can aid prenatal diagnosis.
Catalog record
| CREATOR | Jinghan Gao, Huan Zhou, Li Zhang, Zihan Su, Shiguo Liu |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 48 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |