Congenital disorders of glycosylation: The Saudi experience

被引：30

作者：

Alsubhi, Sarah ^{[1
]}

Alhashem, Amal ^{[2
]}

Faqeih, Eissa ^{[3
]}

Alfadhel, Majid ^{[4
]}

Alfaifi, Abdullah ^{[4
]}

Altuwaijri, Waleed ^{[5
]}

Alsahli, Saud ^{[4
]}

Aldhalaan, Hesham ^{[6
]}

Alkuraya, Fowzan S. ^{[7
,8
]}

Hundallah, Khalid ^{[1
]}

Mahmoud, Adel ^{[3
]}

Alasmari, Ali ^{[3
]}

Al Mutairi, Fuad ^{[4
]}

Abduraouf, Hanem ^{[2
]}

AlRasheed, Layan ^{[2
]}

Alshahwan, Saad ^{[1
]}

Tabarki, Brahim ^{[1
]}

机构：

[1] Prince Sultan Mil Med City, Div Pediat Neurol, Dept Pediat, Riyadh, Saudi Arabia

[2] Prince Sultan Mil Med City, Div Genet, Dept Pediat, Riyadh, Saudi Arabia

[3] King Fahad Med City, Childrens Hosp, Dept Pediat Subspecialties, Riyadh, Saudi Arabia

[4] King Fahad Med City, Dept Pediat, Div Genet, Riyadh, Saudi Arabia

[5] King Abdul Aziz Med City, Div Pediat Neurol, Dept Pediat, Riyadh, Saudi Arabia

[6] King Faisal Specialist Hosp & Res Ctr, Div Pediat Neurol, Dept Neurosci, Riyadh, Saudi Arabia

[7] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh, Saudi Arabia

[8] Alfaisal Univ, Dept Anat & Cell Biol, Coll Med, Riyadh, Saudi Arabia

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2017年 / 173卷 / 10期

关键词：

ALG9; CDG; Congenital disorder(s) of glycosylation; severe phenotype; skeletal dysplasia; CDG-IA; DEFICIENCY; MUTATIONS; PHENOTYPE; PROTEIN;

D O I：

10.1002/ajmg.a.38358

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We retrospectively reviewed Saudi patients who had a congenital disorder of glycosylation (CDG). Twenty-seven Saudi patients (14 males, 13 females) from 13 unrelated families were identified. Based on molecular studies, the 27 CDG patients were classified into different subtypes: ALG9-CDG (8 patients, 29.5%), ALG3-CDG (7 patients, 26%), COG6-CDG (7 patients, 26%), MGAT2-CDG (3 patients, 11%), SLC35A2-CDG (1 patient), and PMM2-CDG (1 patient). All the patients had homozygous gene mutations. The combined carrier frequency of CDG for the encountered founder mutations in the Saudi population is 11.5 per 10,000, which translates to a minimum disease burden of 14 patients per 1,000,000. Our study provides comprehensive epidemiologic information and prevalence figures for each of these CDG in a large cohort of congenital disorder of glycosylation patients.

引用

页码：2614 / 2621

页数：8

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