Ontology highlight
ABSTRACT:
SUBMITTER: Jensson BO
PROVIDER: S-EPMC5686906 | biostudies-other | 2017 Nov
REPOSITORIES: biostudies-other
Jensson Brynjar O BO Hansdottir Sif S Arnadottir Gudny A GA Sulem Gerald G Kristjansson Ragnar P RP Oddsson Asmundur A Benonisdottir Stefania S Jonsson Hakon H Helgason Agnar A Saemundsdottir Jona J Magnusson Olafur T OT Masson Gisli G Thorisson Gudmundur A GA Jonasdottir Adalbjorg A Jonasdottir Aslaug A Sigurdsson Asgeir A Jonsdottir Ingileif I Petursdottir Vigdis V Kristinsson Jon R JR Gudbjartsson Daniel F DF Thorsteinsdottir Unnur U Arngrimsson Reynir R Sulem Patrick P Gudmundsson Gunnar G Stefansson Kari K
BMC medical genetics 20171114 1
<h4>Background</h4>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.<h4>Case presentation</h4>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 who ...[more]