Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome.
RAB34
cleft palate
fetal malformation
polydactyly
rare disease
skeletal ciliopathy
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
Jan 2024
Jan 2024
Historique:
revised:
10
08
2023
received:
16
06
2023
accepted:
12
08
2023
pubmed:
25
8
2023
medline:
25
8
2023
entrez:
24
8
2023
Statut:
ppublish
Résumé
Skeletal ciliopathies are a heterogenous group of congenital disorders characterized by multiple internal abnormalities, and distinct radiographic presentation. Pathogenic variants in at least 30 cilia genes are known to cause skeletal ciliopathies. Here we report a fetus with an atypical skeletal ciliopathy phenotype and compound heterozygous variants in the RAB34 gene. The affected fetus had multiple malformations, including posterior neck edema, micrognathia, low-set and small ears, auricular hypoplasia, cleft lip and palate, short extremities, and a combination of rarely occurring pre- and postaxial polydactyly. Genome sequencing identified compound heterozygous variants in the RAB34 gene: maternal c.254T>C, p.(Ile85Thr), and paternal c.691C>T, p.(Arg231*) variants. Only the paternal variant was present in the unaffected sibling. Evidence in the literature indicated that Rab34
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
87-91Subventions
Organisme : Karolinska Institutet
Organisme : Region Stockholm
Organisme : Stiftelsen Frimurare Barnhuset i Stockholm
Organisme : Stiftelsen Promobilia
Organisme : Vetenskapsrådet
Informations de copyright
© 2023 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.
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