Glycogen storage disease type II in Spanish patients:: High frequency of c.1076-1G>C mutation

被引：42

作者：

Gort, Laura

Coll, M. Josep

Chabas, Amparo

机构：

[1] Hosp Clin Barcelona, Inst Bioquim Clin, Barcelona 08028, Spain

[2] Ctr Invest Biomed Enfermedades Raras CIBERER, Barcelona, Spain

来源：

MOLECULAR GENETICS AND METABOLISM | 2007年 / 92卷 / 1-2期

关键词：

acid alpha-glucosidase; GAA; glycogen storage disease; haplotype analysis; lysosomal storage disorder; molecular analysis; Pompe disease;

D O I：

10.1016/j.ymgme.2007.05.011

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Glycogen storage disease type II is an autosomal recessive disorder of glycogen metabolism due to deficiency of lysosomal acid a-glucosidase. We present the molecular and enzymatic analyses of 22 Spanish GSD II patients. Molecular analyses revealed nine novel mutations. The most common defects were mutations c.-32-13T>G (25%) and c.1076-1G>C (14%) and we report the first homozygous patient for c.1076-1G>C mutation presenting with an infantile form. Alleles bearing mutation c.-32-13T>G are associated with the same haplotype. (C) 2007 Elsevier Inc. All rights reserved.

引用

收藏

页码：183 / 187

页数：5

相关论文

共 15 条

[1] The African origin of the common mutation in African American patients with glycogen-storage disease type II [J].

Becker, JA ;

Vlach, J ;

Raben, N ;

Nagaraju, K ;

Adams, EM ;

Hermans, MM ;

Reuser, AJJ ;

Brooks, SS ;

Tifft, CJ ;

Hirschhorn, R ;

Huie, ML ;

Nicolino, M ;

Plotz, PH .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (04) :991-994

[2]

BOERKOEL CF, 1995, AM J HUM GENET, V56, P887

[3] Consequences of complexity within biological networks: Robustness and health, or vulnerability and disease [J].

Dipple, KM ;

Phelan, JK ;

McCabe, ERB .

MOLECULAR GENETICS AND METABOLISM, 2001, 74 (1-2) :45-50

[4] Phenotypes of patients with "simple" mendelian disorders are complex traits: Thresholds, modifiers, and systems dynamics [J].

Dipple, KM ;

McCabe, ERB .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (06) :1729-1735

[5] Modifier genes convert "simple" Mendelian disorders to complex traits [J].

Dipple, KM ;

McCabe, ERB .

MOLECULAR GENETICS AND METABOLISM, 2000, 71 (1-2) :43-50

[6]

GALJAARD H, 1980, GENETIC METABOLIC DI

[7] Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II [J].

Hermans, MMP ;

van Leenen, D ;

Kroos, MA ;

Beesley, CE ;

Van der Ploeg, AT ;

Sakuraba, H ;

Wevers, R ;

Kleijer, W ;

Michelakakis, H ;

Kirk, ER ;

Fletcher, J ;

Bosshard, N ;

Basel-Vanagaite, L ;

Besley, G ;

Reuser, AJJ .

HUMAN MUTATION, 2004, 23 (01) :47-56

[8]

HUIE ML, 1994, HUM MOL GENET, V3, P2231

[9] Broad spectrum of Pompe disease in patients with the same c.-32-13T→G haplotype [J].

Kroos, M. A. ;

Pomponio, R. J. ;

Hagemans, M. L. ;

Keulemans, J. L. M. ;

Phipps, M. ;

DeRiso, M. ;

Palmer, R. E. ;

Ausems, M. G. E. M. ;

Van der Beek, N. A. M. E. ;

Van Diggelen, O. P. ;

Van der Ploeg, A. T. ;

Reuser, A. J. J. .

NEUROLOGY, 2007, 68 (02) :110-115

[10] GLYCOGEN-STORAGE-DISEASE TYPE-II - FREQUENCY OF 3 COMMON MUTANT ALLELES AND THEIR ASSOCIATED CLINICAL PHENOTYPES STUDIED IN 121 PATIENTS [J].

KROOS, MA ;

VANDERKRAAN, M ;

VANDIGGELEN, OP ;

KLEIJER, WJ ;

REUSER, AJJ ;

VANDENBOOGAARD, MJ ;

AUSEMS, MGEM ;

VANAMSTEL, HKP .

JOURNAL OF MEDICAL GENETICS, 1995, 32 (10) :836-837