Genetic diagnosis of Alport syndrome in 16 Chinese families.
Mol Genet Genomic Med
; 12(3): e2406, 2024 Mar.
Article
en En
| MEDLINE
| ID: mdl-38433557
ABSTRACT
BACKGROUND:
Alport syndrome (AS) is a genetically heterogeneous disorder resulting from mutations in the collagen IV genes COL4A3, COL4A4, and COL4A5. The genetic diagnosis of AS is very important to make precise diagnosis and achieve optimal outcomes.METHODS:
In this study, 16 Chinese families with suspected AS were recruited after pedigree analysis, and the clinical presentations were analyzed by a nephrologist. The genetic diagnosis was performed by whole-exome sequencing (WES) and the disease-causing variants were confirmed by Sanger sequencing.RESULTS:
The cohort of probands included seven men and nine women, with a mean age of 19.9 years. Pathological analysis showed slight-to-moderate mesangial proliferation, and thin basement membrane was the main findings. Pathogenic variants were revealed by WES in each family, and the co-segregation with renal presentation was confirmed by PCR. In addition, RT-PCR analysis showed that the intronic variant led to aberrant splicing.CONCLUSION:
Our findings expand the spectrum of AS gene variation, which will inform genetic diagnosis and add to the theoretical basis for the prevention of AS.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Nefritis Hereditaria
Límite:
Adult
/
Female
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Mol Genet Genomic Med
Año:
2024
Tipo del documento:
Article