Whole exome sequencing reveals a homozygous nonsense mutation in HEXA gene leading to Tay-Sachs disease in Saudi Family.
Pak J Med Sci
; 36(6): 1425-1428, 2020.
Article
en En
| MEDLINE
| ID: mdl-32968423
ABSTRACT
OBJECTIVE:
To study the causative variants in affected member of a Saudi family with Tay-Sachs disorder. This disorder includes paralysis, decreasing in attentiveness, seizures, blindness, motor deterioration progresses rapidly leading to a completely unresponsive state and a cherry-red spot visible on the eye.METHODS:
Whole exome sequencing (WES) and Sanger sequencing was performed to study the variant leading to the disease.RESULTS:
WES data analysis and Sanger sequencing validation, identifies a homozygous nonsense mutation c.1177C>T, p.Arg393Ter as a result in protein change. This mutation was also studied in 100 unrelated healthy controls.CONCLUSIONS:
We detected homozygous mutation in HEXA gene that may lead to cause Tay-Sachs disorder. Moreover, explain the possibility that HEXA gene may play important role for multiple aspects of normal human neurodevelopment.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Tipo de estudio:
Prognostic_studies
Idioma:
En
Revista:
Pak J Med Sci
Año:
2020
Tipo del documento:
Article
País de afiliación:
Arabia Saudita