Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.
Muscle Nerve
; 54(4): 690-5, 2016 10.
Article
en En
| MEDLINE
| ID: mdl-26934379
ABSTRACT
INTRODUCTION:
The genetic causes of limb-girdle muscular dystrophy (LGMD) have been studied in numerous countries, but such investigations have been limited in Egypt.METHODS:
A cohort of 30 families with suspected LGMD from Assiut, Egypt, was studied using immunohistochemistry, homozygosity mapping, Sanger sequencing, and whole exome sequencing.RESULTS:
Six families were confirmed to have pathogenic mutations, 4 in SGCA and 2 in DMD. Of these, 3 families harbored a single nonsense mutation in SGCA, suggesting that this may be a common mutation in Assiut, Egypt, originating from a founder effect.CONCLUSIONS:
The Assiut region in Egypt appears to share at least several of the common LGMD genes found in other parts of the world. It is notable that 4 of the 6 mutations were ascertained by means of whole exome sequencing, even though it was the last approach adopted. This illustrates the power of this technique for identifying causative mutations for muscular dystrophies. Muscle Nerve 54 690-695, 2016.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Codón sin Sentido
/
Distrofia Muscular de Cinturas
/
Sarcoglicanos
/
Homocigoto
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Female
/
Humans
/
Male
País/Región como asunto:
Africa
Idioma:
En
Revista:
Muscle Nerve
Año:
2016
Tipo del documento:
Article