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

Sivagamy Sithambaram; Prince Jacob; Kausthubham Neethukrishna; Gandham Sri Lakshmi Bhavani; Ashwin Dalal; Hitesh Shah; Katta Mohan Girisha

doi:10.1002/ajmg.a.63566

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

Sivagamy Sithambaram, Prince Jacob, Kausthubham Neethukrishna, Gandham Sri Lakshmi Bhavani, Ashwin Dalal, Hitesh Shah, Katta Mohan Girisha^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Journal	American Journal of Medical Genetics, Part A
DOIs	https://doi.org/10.1002/ajmg.a.63566
Publication status	Published - Feb 15 2024
Externally published	Yes

Keywords

atrial defects-polydactyly-multiple congenital malformation syndrome
PRKACA
PRKACA-related
skeletal ciliopathies

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.63566

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title = "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.",

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AU - Sithambaram, Sivagamy

AU - Jacob, Prince

AU - Neethukrishna, Kausthubham

AU - Bhavani, Gandham Sri Lakshmi

AU - Dalal, Ashwin

AU - Shah, Hitesh

AU - Girisha, Katta Mohan

PY - 2024/2/15

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AB - 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.

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

Abstract

Keywords

ASJC Scopus subject areas

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