Analysis of Alport syndrome induced by type IV collagen alpha 5 gene mutation in two families.
- Author:
Qing YE
1
;
Yingying ZHANG
2
;
Jingjing WANG
2
;
Jianhua MAO
2
Author Information
1. Clinical Laboratory, the Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China.
2. Department of Nephrology, the Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China.
- Publication Type:Case Reports
- MeSH:
Collagen Type IV;
genetics;
Female;
Genetic Testing;
Humans;
Mutation;
Nephritis, Hereditary;
genetics;
Phenotype;
Prenatal Diagnosis
- From:
Journal of Zhejiang University. Medical sciences
2019;48(4):384-389
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To investigate genetic characteristics of Alport syndrome.
METHODS:High-throughput sequencing-based whole exome sequencing was performed in two patients with recurrent unexplained abnormal urinalysis. The pathogenicity of the genetic variations, type of Mendelian genetics, and clinical phenotypes were analysed, and the disease-cause mutations were confirmed in the family members using Sanger sequencing.
RESULTS:Two heterozygous splice site mutations of gene c.2147-2A > T (IVS27) and c.646-2A > G (IVS11) (NM_033380) were found in patients of the two families, which showed a co-segregation association with the affected members of the families.
CONCLUSIONS:Alport syndrome is mainly inherited from direct female patients, and prenatal genetic screening based on amniotic fluid testing can effectively prevent birth defects in patients with a family history of this characteristic phenotype.
