Compound Mutations of the COL4A3 including a Novel Allele Identified in a Patient with Alport Syndrome
Joint Authors
Wang, Zhendong
Jiang, Baichun
Jin, Shiqi
Hu, Zhao
Liu, Guangyi
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-11-11
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Wang, Zhendong& Jiang, Baichun& Jin, Shiqi& Hu, Zhao& Liu, Guangyi. 2020. Compound Mutations of the COL4A3 including a Novel Allele Identified in a Patient with Alport Syndrome. BioMed Research International،Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1131768
Modern Language Association (MLA)
Wang, Zhendong…[et al.]. Compound Mutations of the COL4A3 including a Novel Allele Identified in a Patient with Alport Syndrome. BioMed Research International No. 2020 (2020), pp.1-5.
https://search.emarefa.net/detail/BIM-1131768
American Medical Association (AMA)
Wang, Zhendong& Jiang, Baichun& Jin, Shiqi& Hu, Zhao& Liu, Guangyi. Compound Mutations of the COL4A3 including a Novel Allele Identified in a Patient with Alport Syndrome. BioMed Research International. 2020. Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1131768
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1131768