New mutations of COL4A3 gene in an autosomal recessive Alport syndrome pedigree

Objective To explore COL4A3 gene mutation spectrum in autosomal recessive Alport syndrome. Methods The Exon 27 and Exon 48 of COL4A3 gene were sequenced by high-throughput DNA sequencing method in one child with Alport syndrome, her parents, and two sisters. The detected mutations were checked by PCR based Sanger DNA sequencing method. Results Two heterozygous splicing mutations, c.1928-2AT in Exon 48 and c.4280GT(p.G1427V), were found, which could lead to Alport syndrome. Conclusions New mutations of COL4A3 gene were found, which enriched the mutation spectrum of COL4A3 of Alport syndrome.