Clinical and molecular characteristics of tectonic (TCTN1) gene-related Joubert syndrome in a Saudi boy |
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| Affiliation: | 1. Department of Neuroscience, King Faisal Specialist Hospital & Research Centre, Jeddah, Saudi Arabia;2. College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia;3. King Abdullah International Medical Research Center, Jeddah, Saudi Arabia;4. Pediatric Department, Ministry of National Guard Health Affairs, Jeddah, Saudi Arabia;5. Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia;6. Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia |
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| Abstract: | Joubert syndrome (OMIM:609863) is a hereditary disorder characterized by hypotonia, developmental delay, and a distinctive cerebellar and brain stem malformation known as the molar tooth sign. Variants in tectonic genes TCTN1-3 have been described in a few patients with Joubert syndrome. Furthermore, Joubert syndrome attributed to variants in the TCTN1 (NM_001082538.2) gene has been only described in two reports. This report expands the clinical variability and molecular characterization of an emerging novel causative gene for Joubert syndrome in a Saudi boy born to non-consanguineous marriage with a c.1418del p.(Pro473Leufs*42) and c.800A > G p.(Tyr267Cys) representing a novel compound heterozygous variant of the TCTN1 gene identified by whole-exome sequencing and confirmed by Sanger sequencing. This is the first report of compound heterozygous Joubert syndrome type 13 from Saudi Arabia. |
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| Keywords: | Joubert syndrome Compound heterozygous Saudi Arabia |
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