[A novel COL4A5 splicing mutation causing Alport syndrome in a Chinese family].
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.


CONCLUSIONS
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.
Tang
Zhaohui
Z
Key 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.
Dai
Yong
Y
Wan
Zhihui
Z
Zhan
Tailan
T
Tan
Jinwang
J
Ren
Xiang
X
Liu
Jingyu
J
Wang
Qing
Q
Liu
Mugen
M
D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D041321:Chromosomes, Human, X / Q000235:genetics; D024141:Collagen Type IV / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009154:Mutation; D009394:Nephritis, Hereditary / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012326:RNA Splicing / Q000235:genetics*
C478159:COL4A5 protein, human; D024141:Collagen Type IV