[Analysis of two Chinese pedigrees affected with Alport syndrome due to novel variants of COL4A5 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(11): 1224-1227, 2022 Nov 10.
Article
en Zh
| MEDLINE
| ID: mdl-36317207
ABSTRACT
OBJECTIVE:
To explore the genetic basis for two Chinese pedigrees affected with Alport syndrome.METHODS:
Potential variants of the COL4A5 gene were screened by next generation sequencing (NGS). Candidate variants were verified by Sanger sequencing of other members from the pedigrees as well as 100 healthy controls. ClustalX 2.1 win was used to analyze the conservation of amino acid sequences. SWISS-MODEL was used for assessing the influence of variations on the protein structure.RESULTS:
Two heterozygous missense variants of the COL4A5 gene, namely c.2210G>A (p.Gly737Asp) and c.3799G>A (p.Gly1267Ser), were respectively identified in the affected individuals from the two pedigrees but not among the 100 healthy controls. Neither variant was reported previously.CONCLUSION:
The c.2210G>A (p.Gly737Asp) and c.3799G>A (p.Gly1267Ser) variants of the COL4A5 gene probably underlay the Alport syndrome in these pedigrees. Above finding has enriched the spectrum of COL4A5 gene variants and provided a basis for genetic counseling and prenatal diagnosis for the families.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Nefritis Hereditaria
Tipo de estudio:
Prognostic_studies
Límite:
Female
/
Humans
/
Pregnancy
País/Región como asunto:
Asia
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2022
Tipo del documento:
Article
País de afiliación:
China