Congenital disorder of glycosylation-Ic:: Case report and genetic defect

被引：23

作者：

Hanefeld, F

Körner, C

Holzbach-Eberle, U

von Figura, K

机构：

[1] Univ Gottingen, Abt Kinderheilkunde, Schwerpunkt Neuropaediat, D-37075 Gottingen, Germany

[2] Univ Gottingen, Biochem Abt 2, D-37075 Gottingen, Germany

来源：

NEUROPEDIATRICS | 2000年 / 31卷 / 02期

关键词：

CDG; Dol-P-Glc : Man(9)GlcNAc(2)-PP-Dol glucosyltransferase;

D O I：

10.1055/s-2000-7486

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The clinical phenotype and the molecular defect of a patient with a new subtype of congenital disorders of glycosylation (CDC-lc, formerly designated as CDGS type V) characterized by a deficiency of Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol glucosyltransferase is described. The clinical picture presents with several features similar to CDC-la (phosphomannomutase 2 deficiency) such as hypotonia and atactic-dystonic movements. In contrast to CDG-1a, the course of the disease appears milder. The head growth, the functioning of the peripheral nerves and the initial cerebellar development were normal. Sequencing of the patient's Dol-P-Clc:Man(9)GlcNAc(2)-PP-Dol glucosyltransferase cDNA revealed an in-frame deletion of three nucleotides leading to the loss of isoleucine 299.

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页码：60 / 62

页数：3

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