TY - JOUR
T1 - PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome in an Indian patient
AU - Sithambaram, Sivagamy
AU - Jacob, Prince
AU - Neethukrishna, Kausthubham
AU - Bhavani, Gandham Sri Lakshmi
AU - Dalal, Ashwin
AU - Shah, Hitesh
AU - Girisha, Katta Mohan
N1 - Publisher Copyright:
© 2024 Wiley Periodicals LLC.
PY - 2024/7
Y1 - 2024/7
N2 - 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.
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.
UR - https://www.scopus.com/pages/publications/85185668218
UR - https://www.scopus.com/pages/publications/85185668218#tab=citedBy
U2 - 10.1002/ajmg.a.63566
DO - 10.1002/ajmg.a.63566
M3 - Article
C2 - 38357848
AN - SCOPUS:85185668218
SN - 1552-4825
VL - 194
SP - e63566
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 7
M1 - e63566
ER -