Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect

被引：13

作者：

Santoro, Massimo

Modom, Anna

Sabatelli, Mario

Madia, Francesca

Piemonte, Fiorella

Tozzi, Giulia

Ricci, Enzo

Tonali, Pletro A.

Silvestri, Gabriella ^{[1
]}

机构：

[1] Univ Cattolica Sacro Cuore, Inst Neurol, Dept Neurosci, I-00168 Rome, Italy

[2] Bambino Gesu Pediat Hosp, Mol Med Lab, Rome, Italy

[3] Fdn Don Carlo Gnocchi, Rome, Italy

来源：

MOLECULAR GENETICS AND METABOLISM | 2007年 / 91卷 / 01期

关键词：

GM2; gangliosidosis; Sandhoff disease; HEXB gene; beta-hexosaminidase; ESE;

D O I：

10.1016/j.ymgme.2006.12.004

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We identified a novel c.1556A > G transition in exon 12 of the HEXB gene associated with chronic Sandhof's disease, changing a conserved aspartic acid to glycine at position 494 of the Hex (beta-subunit; moreover, RT-PCR showed aberrant exon 12 skipping, causing a frame-shift and premature stop codon, consequent to the disruption of an exonic splicing enhancer motif by the mutation. These data suggest that the c.1556 A > G transition would affect both HEXB mRNA processing and biochemical properties of the beta-subunit. (C) 2006 Elsevier Inc. All rights reserved.

引用

页码：111 / 114

页数：4

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