Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Journal
NPJ genomic medicine
ISSN: 2056-7944
Titre abrégé: NPJ Genom Med
Pays: England
ID NLM: 101685193
Informations de publication
Date de publication:
01 Mar 2024
01 Mar 2024
Historique:
received:
16
08
2023
accepted:
26
01
2024
medline:
2
3
2024
pubmed:
2
3
2024
entrez:
1
3
2024
Statut:
epublish
Résumé
CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising central nervous system (CNS) anomalies (7/12), combined CNS anomalies and congenital anomalies of the kidneys and urinary tract (CAKUT) (3/12) and CAKUT only (2/12). Computational simulation of the 3D protein structure suggests the position of the identified variants to be implicated in penetrance and phenotype expression. CELSR3 immunolocalization in human embryonic urinary tract and transient suppression and rescue experiments of Celsr3 in fluorescent zebrafish reporter lines further support an embryonic role of CELSR3 in CNS and urinary tract formation.
Identifiants
pubmed: 38429302
doi: 10.1038/s41525-024-00398-9
pii: 10.1038/s41525-024-00398-9
doi:
Types de publication
Journal Article
Langues
eng
Pagination
18Subventions
Organisme : NHGRI NIH HHS
ID : K08 HG008986
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG006542
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG011758
Pays : United States
Informations de copyright
© 2024. The Author(s).
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