Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.
CSNK2A1
Okur-Chung neurodevelopmental syndrome
casein kinase 2
inherited variants
variable expressivity
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
Nov 2023
Nov 2023
Historique:
revised:
12
07
2023
received:
15
06
2023
accepted:
16
07
2023
pubmed:
26
7
2023
medline:
26
7
2023
entrez:
26
7
2023
Statut:
ppublish
Résumé
Pedigree showing the autosomal dominant inheritance pattern of CSNK21 variants in families presenting with OCNDS. (A) Maternal inheritance to two daughters in Family 1, (B) Paternal inheritance to a daughter in Family 2, and (C) Maternal inheritance to two sons in Family 3.
Types de publication
Letter
Langues
eng
Sous-ensembles de citation
IM
Pagination
607-609Subventions
Organisme : CSNK2A1 Foundation
Informations de copyright
© 2023 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.
Références
Okur V, Cho MT, Henderson L, et al. De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. Hum Genet. 2016;135:699-705. doi:10.1007/s00439-016-1661-y
Jafari Khamirani H, Zoghi S, Motealleh A, et al. Clinical features of Okur-Chung neurodevelopmental syndrome: case report and literature review. Mol Syndromol. 2022;13:381-388.
Chung W, Okur V. Okur-Chung neurodevelopmental syndrome. In: Adam MP, Mirzaa GM, Pagon RA, et al., eds. GeneReviews®. University of Washington; 2022.
Chiu ATG, Pei SLC, Mak CCY, et al. Okur-Chung neurodevelopmental syndrome: eight additional cases with implications on phenotype and genotype expansion. Clin Genet. 2018;93:880-890.
Xu S, Lian Q, Wu J, Li L, Song J. Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report. BMC Med Genet. 2020;21:158.