PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome in an Indian patient

Abstract

PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome is a recently described skeletal ciliopathy, which is caused by disease-causing variants in PRKACA. The primary phenotypic description includes atrial septal defects, and limb anomalies including polydactyly and short limbs. To date, only four molecularly proven patients have been reported in the literature with a recurrent variant, c.409G>A p.Gly137Arg in PRKACA. In this study, we report the fifth affected individual with the same variant and review the clinical features and radiographic findings of this rare syndrome.

Keywords: PRKACA; PRKACA-related; atrial defects-polydactyly-multiple congenital malformation syndrome; skeletal ciliopathies.