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A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22).

Authors
  • Mégarbané, André1
  • Hmaimess, Ghassan2
  • Bizzari, Sami3
  • El-Bazzal, Lara4
  • Al-Ali, Mahmoud Taleb3
  • Stora, Samantha5
  • Delague, Valerie4
  • El-Hayek, Stephany3
  • 1 Institut Jérôme Lejeune, CRB BioJeL, Paris, France. Electronic address: [email protected] , (France)
  • 2 Pediatric Department, Balamand University, Beirut, Lebanon. , (Lebanon)
  • 3 Centre for Arab Genomic Studies, Dubai, United Arab Emirates. , (United Arab Emirates)
  • 4 Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France. , (France)
  • 5 Institut Jérôme Lejeune, CRB BioJeL, Paris, France. , (France)
Type
Published Article
Journal
European journal of medical genetics
Publication Date
Nov 01, 2019
Volume
62
Issue
11
Pages
103576–103576
Identifiers
DOI: 10.1016/j.ejmg.2018.11.010
PMID: 30423442
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

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. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

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