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Updated: Jun 27, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[A novel COL4A5 splicing mutation causing Alport syndrome in a Chinese family]
Zhaohui Tang1, Yong Dai, Zhihui Wan
1Key Laboratory of Molecular Biophysics of Ministry of Education, Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei 430074, P. R. China.
Objective:
To identify the pathogenic mutation in a Chinese family with Alport syndrome.
Methods:
Blood samples were collected from the members of the family. Direct DNA sequence analysis of the entire coding region and exon-intron boundaries of the COL4A5 gene was performed, and restriction fragment length polymorphism (RFLP) analysis was used to confirm the sequencing results and to test the mutation in all the family members and 200 controls.
Results:
A novel splicing mutation of c.1517-1G to T in the COL4A5 gene was identified in all patients in the family. RFLP analysis did not detect this mutation in all the unaffected family members and the 200 controls.
Conclusion:
This data revealed a novel splicing mutation of c.1517-1G to T in the COL4A5 gene causing Alport syndrome in a Chinese family. Author's study enriched the spectrum of COL4A5 mutation associated with Alport syndrome.
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