Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease)

Neuromuscular Disorders

Volumn 12, Issue 2, 2002, Pages 159-166

  Fernandez Hojas, Roberto ^a,b   Huie, Maryann L ^a   Hirschhorn, Rochelle ^a   Navarro, Carmen ^b   Teijeira, Susana ^b   Dominguez, Carmen ^c   Roig, Manuel ^c   Lopez Coronas, Diana ^d   Anyane Yeboa, Kwame ^e  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HOSPITAL DO MEIXOEIRO   (Spain)

^c HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^d Hospital Ntra Sra de Belén   (Spain)

^e Centro Materno Infantil Ntra Sra de Belen ^*  (United States)

Author keywords

Alpha glucosidase; Pompe disease

Indexed keywords

ALPHA GLUCOSIDASE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; FRAMESHIFT MUTATION; GENE MAPPING; GENE SEQUENCE; GENETIC VARIABILITY; GLYCOGEN STORAGE DISEASE TYPE 2; HEART MUSCLE; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS; SKELETAL MUSCLE; SPAIN;

AGE OF ONSET; ALPHA-GLUCOSIDASES; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; BASE SEQUENCE; EXONS; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; LYSOSOMES; MALE; MUTATION; SEQUENCE ALIGNMENT; SPAIN;

EID: 0036133715     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(01)00247-4     Document Type: Article

References (31)

1. Glycogen storage disease type II: Acid α-glucosidase (Acid maltase) deficiency
2. Clinical diversity in glycogenosis type II
3. Extensive heterogeneity in patients with Acid Alpha Glucosidase deficiency as detected by abnormalities of DNA and mRNA
4. Glycogenosis type II (acid maltase deficiency)
5. Genetic defects in patients with glycogenosis type II (acid maltase deficiency)
6. Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization
7. Isolation and partial characterization of the structural gene for human acid alpha glucosidase
8. Sequence of the cDNA and 5'-flanking region for human acid α-glucosidase, detection of an intron in the 5″ untranslated leader sequence, definition of 18-nt polymorphisms, and differences with previous cDNA and amino acid sequences
9. Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation
10. Human lysosomal α-glucosidase: Functional characterization of the glycosylation sites
11. Frequency of mutations for glycogen storage disease type II in different populations: The ΔT525 and Δexon 18 mutations are not generally 'common' in white populations
12. Deletion of exon 18 is a frequent mutation in glycogen storage disease type II
13. The effect of a single base pair deletion (ΔT525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal α-glucosidase in patients with glycogen storage disease type II
14. Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: Evidence for a founder effect
15. The conservative substitution Asp-645→Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen storage disease type II
16. Glycogenosis type II: A juvenile specific mutation with an unusual splicing pattern and a shared mutation in African Americans
17. The African origin of the common mutation in African American patients with glycogen storage disease type II
18. Aberrant splicing in adult onset glycogen storage disease type II (GSD II): Molecular identification of an IVS1 (-13T→G) mutation in a majority of patients and a novel IVS10 (+21GT→CT) mutation
19. Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II
20. White blood cells and the diagnosis of α-Glucosidase deficiency
21. Late-onset acid maltase deficiency. Biochemical studies in leukocytes
22. Protein measurement with the Folin phenol reagent
23. Molecular genetic study of Pompe disease in Chinese patients in Taiwan
24. Glycogen storage disease type II: Identification of four novel missense mutations (D645N, G648S, R672W and R672Q) and two insertion/deletions in the acid α-glucosidase locus of patients of differing phenotype
25. Forma grave de glucogenosis tipo II juvenil en un niño heterocigoto compuesto (Tyr-292→Cys/Arg-854→Stop)
26. A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSD II)
27. Glycogen storage disease type II (acid maltase deficiency): Identification of a novel small deletion (delCC482+2483) in French patients
28. Glycogen storage disease type II: Frequency of three common mutation alleles and their associated clinical phenotypes studied in 121 patients
29. Mutation detection in glycogen storage disease type II by RT-PCR and automated sequencing
30. A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease type II (GSDII)