Clinical and molecular characteristics of tectonic (TCTN1) gene-related Joubert syndrome in a Saudi boy.
Brain Dev
; 44(4): 299-302, 2022 Apr.
Article
en 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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Retina
/
Anomalías Múltiples
/
Cerebelo
/
Anomalías del Ojo
/
Enfermedades Renales Quísticas
/
Proteínas de la Membrana
Tipo de estudio:
Prognostic_studies
Límite:
Child
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Brain Dev
Año:
2022
Tipo del documento:
Article
País de afiliación:
Arabia Saudita