Novel deletion mutation in a Chinese family with X-linked alport syndrome.

ABSTRACT: BACKGROUNDS AND OBJECTIVES:alport syndrome (AS) is a progressive hereditary condition that is characterized by haematuria, proteinuria, progressive renal impairment, and end stage kidney disease (ESRD). Approximately 85% of AS patients have X-linked mutations in the COL4A5 gene that encodes type IV collagen. The aim of our study was to identify the gene responsible for glomerulopathy in a 3-generation Chinese pedigree with familial haematuria. METHODS:We examined five members of a Chinese family clinically suspected of X-linked AS caused by COL4A5 gene mutations. All 51 exons of the COL4A5 gene were screened by direct DNA sequencing. RESULTS:We identified the novel deletion mutation c. 3990_4016delCCC…TCC in COL4A5 in three affected individuals with haematuria, but the mutation was absent

SUBMITTER: Li Y 

PROVIDER: S-EPMC6962970 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature