COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.

ABSTRACT:

Background

Rare missense mutations in the gene encoding coatomer subunit alpha (COPA) have recently been shown to cause autoimmune interstitial lung, joint and kidney disease, also known as COPA syndrome, under a dominant mode of inheritance.

Case presentation

Here we describe an Icelandic family with three affected individuals over two generations with a rare clinical presentation of lung and joint disease and a histological diagnosis of follicular bronchiolitis. We performed whole-genome sequencing (WGS) of the three affected as well as three unaffected members of the family, and searched for rare genotypes associated with disease using 30,067 sequenced Icelanders as a reference population. We assessed all coding and splicing variants, prioritizing variants in genes known

SUBMITTER: Jensson BO 

PROVIDER: S-EPMC5686906 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature