High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia

被引：5

作者：

Cherif, Wafa ^{[1
,2
]}

Ben Rhouma, Faten ^{[1
]}

Messai, Habib ^{[1
]}

Mili, Amira ^{[3
]}

Gribaa, Moez ^{[4
]}

Kefi, Rym ^{[1
]}

Ayadi, Abdelkarim ^{[5
]}

Boughamoura, Lamia ^{[6
]}

Chemli, Jelel ^{[7
]}

Saad, Ali ^{[4
]}

Kaabachi, Naziha ^{[8
]}

Sfar, Mohamed Tahar ^{[5
]}

Ben Dridi, Marie-Francoise ^{[2
]}

Tebib, Neji ^{[2
]}

Abdelhak, Sonia ^{[1
]}

机构：

[1] Pasteur Inst Tunis, Lab Biomed Genom & Oncogenet LR11IPT05, Tunis 1002, Tunisia

[2] La Rabta Hosp, Dept Pediat, Inherited Metab Dis Unit, Tunis, Tunisia

[3] Med Univ, Biochem Lab, Sousse, Tunisia

[4] Farhat Hached Hosp, Cytogenet Lab, Sousse, Tunisia

[5] Mahdia Hosp, Dept Pediat, Mahdia 5100, Tunisia

[6] Farhat Hached Hosp, Dept Pediat, Sousse 4031, Tunisia

[7] Sahloul Hosp, Dept Pediat, Sousse, Tunisia

[8] La Rabta Hosp, Biochem Lab, Tunis 1007, Tunisia

来源：

ANNALES DE BIOLOGIE CLINIQUE | 2012年 / 70卷 / 06期

关键词：

glycogen storage disease type III; molecular diagnosis; Tunisia; founder effect; W1327X mutation; DEBRANCHING ENZYME; DEFICIENCY; FEATURES; TURKEY;

D O I：

10.1684/abc.2012.0766

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

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.

引用

页码：648 / 650

页数：3