Please use this identifier to cite or link to this item: https://scholarhub.balamand.edu.lb/handle/uob/5628
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dc.contributor.authorMégarbané, Andréen_US
dc.contributor.authorHmaimess, Ghassanen_US
dc.contributor.authorBizzari, Samien_US
dc.contributor.authorEl-Bazzal, Laraen_US
dc.contributor.authorAl-Ali, Mahmoud Taleben_US
dc.contributor.authorStora, Samanthaen_US
dc.contributor.authorDelague, Valerieen_US
dc.contributor.authorEl-Hayek, Stephanyen_US
dc.date.accessioned2022-05-19T12:51:10Z-
dc.date.available2022-05-19T12:51:10Z-
dc.date.issued2019-
dc.identifier.issn17697212-
dc.identifier.urihttps://scholarhub.balamand.edu.lb/handle/uob/5628-
dc.description.abstractJoubert syndrome (JS) is an autosomal or X-linked recessive syndrome principally characterized by hypotonia, ataxia, cognitive impairment, and a specific finding on brain imaging called a "molar tooth sign" (MTS), which can be isolated or in conjunction with variable organ involvement. The genetic basis of JS is heterogeneous, with over 35 ciliary genes being implicated in its pathogenesis. However, some of these genes (such as PDE6D) have been associated to JS only in single families, seeking confirmation. Here we report a boy, born to first cousin parents, presenting with developmental delay, hypotonia, microcephaly, post axial polydactyly, oculomotor apraxia, and MTS. Whole exome sequencing revealed the presence of a novel homozygous truncating variant in the PDE6D gene: NM_002601.3:c.367_368insG [p.(Leu123Cysfs*13)]. The variant was confirmed by Sanger sequencing and found at the heterozygous state in both parents. A review of the literature pertaining to the role of PDE6D in JS is discussed.en_US
dc.language.isoengen_US
dc.publisherElsevieren_US
dc.subjectJoubert syndromeen_US
dc.subjectPDE6Den_US
dc.subjectWESen_US
dc.titleA novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)en_US
dc.typeJournal Articleen_US
dc.identifier.doi10.1016/j.ejmg.2018.11.010-
dc.identifier.pmid30423442-
dc.identifier.scopus2-s2.0-85056484382-
dc.identifier.urlhttps://api.elsevier.com/content/abstract/scopus_id/85056484382-
dc.contributor.affiliationFaculty of Medicineen_US
dc.description.volume62en_US
dc.description.issue11en_US
dc.date.catalogued2022-05-19-
dc.description.statusPublisheden_US
dc.identifier.ezproxyURLhttp://ezsecureaccess.balamand.edu.lb/login?url=https://www.sciencedirect.com/science/article/pii/S1769721218302210?via%3Dihuben_US
dc.relation.ispartoftextEuropean Journal of Medical Geneticsen_US
dc.description.campusSGH campusen_US
Appears in Collections:Faculty of Medicine
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