Clinical and molecular characteristics of tectonic (TCTN1) gene-related Joubert syndrome in a Saudi boy.
Brain Dev
; 44(4): 299-302, 2022 Apr.
Article
in En
| MEDLINE
| ID: mdl-34980503
ABSTRACT
Joubert syndrome (OMIM609863) 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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Retina
/
Abnormalities, Multiple
/
Cerebellum
/
Eye Abnormalities
/
Kidney Diseases, Cystic
/
Membrane Proteins
Type of study:
Prognostic_studies
Limits:
Child
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
En
Journal:
Brain Dev
Year:
2022
Document type:
Article
Affiliation country:
Saudi Arabia