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葡萄糖-6-磷酸转运酶基因新的剪接位点突变导致的无中性粒细胞减少症的Ib型糖原贮积病。

Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene.

作者信息

Angaroni Celia J, Labrune Philippe, Petit François, Sastre Dario, Capra Ana E, Dodelson de Kremer Raquel, Argaraña Carlos E

机构信息

Centro de Estudio de las Metabolopatías Congénitas, CEMECO, Hospital de Niños de la Santísima Trinidad, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Córdoba, Argentina.

出版信息

Mol Genet Metab. 2006 May;88(1):96-9. doi: 10.1016/j.ymgme.2005.12.011. Epub 2006 Feb 21.

DOI:10.1016/j.ymgme.2005.12.011
PMID:16490377
Abstract

A new splicing site substitution (c.985-1G>C) in the glucose-6-phosphate translocase (G6PT1) gene was detected in both alleles of an Argentinean patient. This mutation was associated with an unusual GSD-Ib phenotype without neutropenia. A PCR-based cDNA analysis showed that the c.985-1G>C mutation produced two abnormal spliced G6PT1 transcripts both encoding hypothetical truncated proteins.

摘要

在一名阿根廷患者的两个等位基因中均检测到葡萄糖-6-磷酸转运体（G6PT1）基因的一个新的剪接位点替代（c.985-1G>C）。该突变与一种无中性粒细胞减少的罕见糖原贮积病I型b（GSD-Ib）表型相关。基于PCR的cDNA分析表明，c.985-1G>C突变产生了两种异常剪接的G6PT1转录本，二者均编码假定的截短蛋白。

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