Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient.

ABSTRACT:

Background

Ankylosing spondylitis (AS) is a debilitating autoimmune disease affecting tens of millions of people in the world. The genetics of AS is unclear. Analysis of rare AS pedigrees might facilitate our understanding of AS pathogenesis.

Methods

We used genome-wide linkage analysis and whole-exome sequencing in combination with variant co-segregation verification and haplotype analysis to study an AS pedigree and a sporadic AS patient.

Results

We identified a missense variant in the ankyrin repeat and death domain containing 1B gene ANKDD1B from a Han Chinese pedigree with dominantly inherited AS. This variant (p.L87V) co-segregates with all male patients of the pedigree. In females, the penetrance of the symptoms is incomplete with one identified patient out of

SUBMITTER: Tan Z 

PROVIDER: S-EPMC6034262 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature