[Identification of a novel variant of COL4A5 gene in a pedigree affected with Alport syndrome].

Abstract

OBJECTIVE:

To explore the genetic basis for a pedigree affected with Alport syndrome.

METHODS:

Next generation sequencing and Sanger sequencing was carried out to detect potential variant of the COL4A5 gene among members from the pedigree and 100 unrelated healthy controls.

RESULTS:

A novel missense c.3293G>T (p.Gly1098Val) variant was found in the COL4A5 gene among 6 affected members but not the unaffected members of the pedigree or the 100 healthy controls. According to the American College of Medical Genetics and Genomics standards and guidelines, the c.3293G>T variant was classified as pathogenic (PP1-strong+PM1+PM2+PP3+PP4).

CONCLUSION:

By destructing the Gly-X-Y structure of its protein product, the c.3293G>T variant of the COL4A5 gene probably underlies the Alport syndrome in this pedigree. Above finding has enriched the spectrum of COL4A5 variants.

• Authors: Xiaowei Liu, Ming Gao, Yang Zou, Lijuan Wang, Ranran Kang, Peiwen Xu, Yuping Niu, Sexin Huang, Jie Li, Hongqiang Xie, Yuan Gao
• Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (Zhonghua Yi Xue Yi Chuan Xue Za Zhi) Vol. 37 Issue 8 Pg. 807-810 (Aug 10 2020) ISSN: 1003-9406 [Print] China
• PMID: 32761583 (Publication Type: Journal Article)

Chemical References

• COL4A5 protein, human
• Collagen Type IV

Topics

• Case-Control Studies
• Collagen Type IV (genetics)
• Genomics
• High-Throughput Nucleotide Sequencing
• Humans
• Mutation
• Nephritis, Hereditary (genetics)
• Pedigree