Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features.

ABSTRACT:

Background

Copa syndrome is a rare autosomal dominant disorder with abnormal intracellular vesicle trafficking. The objective of this work is to expand the knowledge about this disorder by delineating phenotypic features of an unreported COPA family.

Methods and results

A heterozygous missense variant (c.698 G>A, p.Arg233His) in COPA was identified in four members of a three-generation kindred with lung, autoimmune and malignant disease of unknown aetiology. Ages of onset were 56, 26, 16 and 1 year, with earlier age of onset in successive generations. Presenting symptoms were cough and dyspnoea. Findings included small lung cysts, follicular bronchiolitis, interstitial lung disease, neuroendocrine cell hyperplasia, rheumatoid arthritis, avascular necrosis and select a

SUBMITTER: Taveira-DaSilva AM 

PROVIDER: S-EPMC6860403 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature