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Title: A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)
Authors: Mégarbané, André
Hmaimess, Ghassan
Bizzari, Sami
El-Bazzal, Lara
Al-Ali, Mahmoud Taleb
Stora, Samantha
Delague, Valerie
El-Hayek, Stephany
Affiliations: Faculty of Medicine 
Keywords: Joubert syndrome
Issue Date: 2019
Publisher: Elsevier
Part of: European Journal of Medical Genetics
Volume: 62
Issue: 11
Joubert 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.
ISSN: 17697212
DOI: 10.1016/j.ejmg.2018.11.010
Ezproxy URL: Link to full text
Type: Journal Article
Appears in Collections:Faculty of Medicine

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