Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations.

ABSTRACT:

Purpose

Kartagener syndrome (KS), also known as visceral inversion-nasosinusitis-bronchiectasis syndrome, or familial bronchiectasis, is an autosomal recessive inherited disease. In this study, through two cases of KS, we aimed to assess the clinical and genetic characteristics of KS caused by DNAH5 mutations.

Methods

The two cases of KS from the same family underwent extensive clinical assessments, with next-generation DNA sequencing and bioinformatics analysis to identify pathogenic genes. In addition, Sanger sequencing was used to verify the pedigrees.

Results

The present study employed a directional capture strategy for hereditary disease screening, which correctly identified the virulence sites in the pedigree, and facilitated the differential diagnosis among mul

SUBMITTER: Xu X 

PROVIDER: S-EPMC5306412 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature