Leukoaraiosis (LA) is a set of magnetic changes with white matter diffuse abormality, and it can be caused by brain small vessel disease. Recent studies showed that collagen type IV alpha 1 (COL4A1) gene mutation as a single-gene disorder could cause cerebral small vessel disease. We aims to analyze the role of COL4A 1 gene mutations in Chinese patients with LA by targeted gene capture and high throughout sequencing technique.

Eleven patients with LA, conformed by imaging in our hospital from March 2012 to September 2014, were chosen in our study; COL4A1 gene mutations were screened using targeted genomic capture and high throughout sequencing strategy. Missense mutation of SNP loci were verified by Sanger method. Biological information of mutation loci were studied by means of funtional biology methods.

A total of 1691 mutation sites were found, including two missense mutations (rs3742207 and rs9515185) and six synonymous mutations. By functional analysis, these two missense mutations showed no effect on protein structure or function.

COL4A1 gene may be irrelevant with incidents of LA in Chinese patients.

Leukoaraiosis; Collagen type IV alpha 1 gene; Target capture sequencing