PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome in an Indian patient.
PRKACA
PRKACA-related
atrial defects-polydactyly-multiple congenital malformation syndrome
skeletal ciliopathies
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
15 Feb 2024
15 Feb 2024
Historique:
revised:
16
01
2024
received:
06
12
2023
accepted:
27
01
2024
medline:
15
2
2024
pubmed:
15
2
2024
entrez:
15
2
2024
Statut:
aheadofprint
Résumé
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.
Identifiants
pubmed: 38357848
doi: 10.1002/ajmg.a.63566
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
e63566Subventions
Organisme : Department of Biotechnology, Ministry of Science and Technology, India
ID : BTI/AAQ/01/CDFD-Flagship/2019
Organisme : Department of Science and Technology, Ministry of Science and Technology, India
ID : SB/SO/HS/005/2014
Informations de copyright
© 2024 Wiley Periodicals LLC.