COPA syndrome caused by a novel p.Arg227Cys COPA gene variant.

ABSTRACT:

Background

COPA syndrome is a recently described and rare monogenic autosomal dominant disease caused by heterozygous missense mutations in the Coatomer Protein Subunit alpha (COPA) gene that encodes the alpha subunit of coat protein complex I (COPI). Its main clinical manifestations are inflammatory lung disease, arthritis, and renal disease. The development of inflammation in COPA syndrome maybe due to abnormal autophagic response and abnormal activation of type I interferon pathway. To date, 59 cases of COPA have been reported worldwide.

Methods

In this case, Trio-whole exome sequencing was employed in the proband and her parents to identify the underlying genetic cause. COPA variant were detected and the clinical presentation of the patient was described.

Results

SUBMITTER: Zheng Y 

PROVIDER: S-EPMC10767596 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature