High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia.
Ann Biol Clin (Paris)
; 70(6): 648-50, 2012.
Article
en En
| MEDLINE
| ID: mdl-23207808
ABSTRACT
Glycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by the deficiency of glycogen debranching enzyme (AGL). It is characterized by hepatomegaly, progressive myopathy, cardiomyopathy and fasting hypoglycemia. Several mutations in AGL gene have been described in different populations. The W1327X mutation was reported in one Tunisian patient resident in Italy. We looked in this report to determine the frequency of W1327X mutation among Tunisian patients. The W1327X mutation was screening in 26 GSD III patients originated from various geographic locations in Tunisia. The sequence analysis revealed that among nine patients carried the W1327X mutation. Eight of them were from six unrelated families and they were originated from Mahdia (centre of Tunisia) suggesting the existence of a founder effect in this region. Taking into account historical migratory waves, screening for this mutation should be performed in priority for molecular diagnosis confirmation of GSD III in North African populations.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Sistema de la Enzima Desramificadora del Glucógeno
/
Enfermedad del Almacenamiento de Glucógeno Tipo III
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Mutación
Límite:
Female
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Humans
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Male
País/Región como asunto:
Africa
Idioma:
En
Revista:
Ann Biol Clin (Paris)
Año:
2012
Tipo del documento:
Article
País de afiliación:
Túnez