A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

被引：28

作者：

Al-Owain, Mohammed ^{[1
,2
]}

Mohamed, Sarar ^{[3
]}

Kaya, Namik ^{[4
]}

Zagal, Ahmad ^{[3
]}

Matthijs, Gert ^{[5
]}

Jaeken, Jaak ^{[6
]}

机构：

[1] King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia

[2] Alfaisal Univ, Coll Med, Riyadh, Saudi Arabia

[3] Saad Hosp, Dept Pediat, Al Khobar, Saudi Arabia

[4] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

[5] Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium

[6] Univ Hosp Gasthuisberg, Ctr Metab Dis, B-3000 Louvain, Belgium

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2010年 / 5卷

关键词：

DEFICIENT GLYCOPROTEIN SYNDROME; CONGENITAL DISORDER; GLYCOSYLATION CDG; DEFECT; NOMENCLATURE; PATIENT; GENE;

D O I：

10.1186/1750-1172-5-7

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Congenital disorders of glycosylation (CDG) are an expanding group of inherited metabolic diseases with multisystem involvement. ALG6-CDG (CDGIc) is an endoplasmatic reticulum defect in N-glycan assembly. It is usually milder than PMM2-CDG (CDG-Ia) and so is its natural course. It is characterized by psychomotor retardation, seizures, ataxia, and hypotonia. In contrast to PMM2-CDG (CDGIa), there is no cerebellar hypoplasia. Cardiomyopathy has been reported in a few CDG types and in a number of patients with unexplained CDG. We report an 11 year old Saudi boy with severe psychomotor retardation, seizures, strabismus, inverted nipples, dilated cardiomyopathy, and a type 1 pattern of serum transferrin isoelectrofocusing. Phosphomannomutase and phosphomannose isomerase activities were normal in fibroblasts. Full gene sequencing of the ALG6 gene revealed a novel mutation namely c.482A>G (p.Y161C) and heterozygosity in the parents. This report highlights the importance to consider CDG in the differential diagnosis of unexplained cardiomyopathy.

引用

页数：4

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