TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.
Journal
HGG advances
ISSN: 2666-2477
Titre abrégé: HGG Adv
Pays: United States
ID NLM: 101772885
Informations de publication
Date de publication:
14 Jan 2021
14 Jan 2021
Historique:
entrez:
1
4
2021
pubmed:
2
4
2021
medline:
2
4
2021
Statut:
ppublish
Résumé
The Joubert-Meckel syndrome spectrum is a continuum of recessive ciliopathy conditions caused by primary cilium dysfunction. The primary cilium is a microtubule-based, antenna-like organelle that projects from the surface of most human cell types, allowing them to respond to extracellular signals. The cilium is partitioned from the cell body by the transition zone, a known hotspot for ciliopathy-related proteins. Despite years of Joubert syndrome (JBTS) gene discovery, the genetic cause cannot be identified in up to 30% of individuals with JBTS, depending on the cohort, sequencing method, and criteria for pathogenic variants. Using exome and targeted sequencing of 655 families with JBTS, we identified three individuals from two families harboring biallelic, rare, predicted-deleterious missense
Identifiants
pubmed: 33791682
doi: 10.1016/j.xhgg.2020.100016
pmc: PMC8009330
mid: NIHMS1663070
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : NICHD NIH HHS
ID : P50 HD103524
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD100730
Pays : United States
Organisme : NICHD NIH HHS
ID : U54 HD083091
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG006493
Pays : United States
Déclaration de conflit d'intérêts
Declaration of interests The authors declare no competing interests.
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