Clinical and genetic diagnosis of a pedigree affected with autosomal recessive Alport syndrome.
10.3760/cma.j.issn.1003-9406.2019.09.015
- Author:
Lili GE
1
,
2
;
Chongfen CHEN
;
Lei LIU
;
Yinsen SONG
Author Information
1. Children's Hospital Affiliated to Zhengzhou University (Zhengzhou Children's Hospital)
2. Henan Provincial Key Laboratory for Genetic and Metabolic Diseases in Children, Zhengzhou, Henan 450018, China.df13607670608@163.com.
- Publication Type:Journal Article
- MeSH:
Child;
Collagen Type IV;
genetics;
Exons;
Female;
Humans;
Male;
Mutation;
Nephritis, Hereditary;
diagnosis;
genetics;
Pedigree;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2019;36(9):914-917
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis of a child with chronic kidney disease featuring renal shrinkage and creatinine increase.
METHODS:Peripheral venous blood samples were taken from the child, his brother and two parents and subjected to whole exome sequencing. Suspected mutations were verified by Sanger sequencing. Bioinformatic analysis was carried out to predict the influence of mutations on the structure and function of the protein product.
RESULTS:High-throughput and Sanger sequencing revealed that the child has carried compound heterozygous mutations of the COL4A4 gene, namely c.4550T>G in exon 47 (inherited from his mother) and c.199C>T in exon 5 (inherited from his father). Neither mutation was reported previously. Bioinformatic analysis showed that both mutations have located in highly conserved regions. The same mutations were not found in his brother.
CONCLUSION:The compound heterozygous c.4550T>G and c.199C>T mutations probably underlie the disease in this child. The findings have enriched the mutation spectrum of the COL4A4 gene.
