Identical
CED-like features
IFT140
MZSDS-like features
cilium phenotype
skeletal ciliopathy
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2022
2022
Historique:
received:
29
04
2022
accepted:
15
06
2022
entrez:
25
7
2022
pubmed:
26
7
2022
medline:
26
7
2022
Statut:
epublish
Résumé
Ciliopathies are rare congenital disorders, caused by defects in the cilium, that cover a broad clinical spectrum. A subgroup of ciliopathies showing significant phenotypic overlap are known as skeletal ciliopathies and include Jeune asphyxiating thoracic dysplasia (JATD), Mainzer-Saldino syndrome (MZSDS), cranioectodermal dysplasia (CED), and short-rib polydactyly (SRP). Ciliopathies are heterogeneous disorders with >187 associated genes, of which some genes are described to cause more than one ciliopathy phenotype. Both the clinical and molecular overlap make accurate diagnosing of these disorders challenging. We describe two unrelated Polish patients presenting with a skeletal ciliopathy who share the same compound heterozygous variants in
Identifiants
pubmed: 35873489
doi: 10.3389/fgene.2022.931822
pii: 931822
pmc: PMC9300986
doi:
Types de publication
Journal Article
Langues
eng
Pagination
931822Informations de copyright
Copyright © 2022 Walczak-Sztulpa, Wawrocka, Doornbos, van Beek, Sowińska-Seidler, Jamsheer, Bukowska-Olech, Latos-Bieleńska, Grenda, Bongers, Schmidts, Obersztyn, Krawczyński and Oud.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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