Compound Mutations of the COL4A3 including a Novel Allele Identified in a Patient with Alport Syndrome

Alport syndrome (AS) is a hereditary nephropathy which is characterized by molecular abnormalities in collagen IV. Here, we report compound mutations of the COL4A3 gene including a novel allele identified in a patient with Alport syndrome. The patient was a 25-year-old Chinese woman. She has a histo...

Full description

Saved in:
Bibliographic Details
Published in:BioMed research international 2020, Vol.2020 (2020), p.1-5
Main Authors: Hu, Zhao, Jin, Shiqi, Jiang, Baichun, Wang, Zhendong, Liu, Guangyi
Format: Article
Language:English
Subjects:
Abnormalities
Alleles
Allelomorphism
Alport syndrome
Alport's syndrome
Amino acids
Bioinformatics
Biopsy
Cleft lip/palate
Collagen
Collagen (type IV)
Deoxyribonucleic acid
DNA
Family medical history
Gene mutations
Genes
Genetic aspects
Genetic screening
Genetics
Health aspects
Hematuria
Mutation
Nephropathy
Patient outcomes
Point mutation
Proteins
Proteinuria
Software
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Alport syndrome (AS) is a hereditary nephropathy which is characterized by molecular abnormalities in collagen IV. Here, we report compound mutations of the COL4A3 gene including a novel allele identified in a patient with Alport syndrome. The patient was a 25-year-old Chinese woman. She has a history of proteinuria and hematuria with cleft lip and palate. The pathologic results were consistent with Alport syndrome. The patient received ACEI treatment but did not respond well to the treatment. Sequencing results revealed that the patient carried two heterozygous mutations in the COL4A3 gene, including a known mutation (c.4243G>C, p.G1415R), which was inherited from her father, and a previously undescribed allele (c.4216G>A, p.G1406R) inherited from her mother. To date, at least 294 different variants of COL4A3 have been reported according to the Human Gene Mutation Database (HGMD). Identification of c.4216G>A as a new AS-related mutation may contribute to both genetic diagnosis of AS and further functional study of COL4A3.
ISSN:2314-6133
2314-6141
DOI:10.1155/2020/1626378