OBJECTIVETo identify the pathogenic mutation in a Chinese family with Alport syndrome.

METHODSBlood 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.

RESULTSA 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.

CONCLUSIONThis 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.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Case-Control Studies ; Chromosomes, Human, X ; genetics ; Collagen Type IV ; genetics ; DNA Mutational Analysis ; Female ; Genetic Linkage ; Humans ; Male ; Mutation ; Nephritis, Hereditary ; genetics ; Pedigree ; Polymorphism, Restriction Fragment Length ; RNA Splicing ; genetics