Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: Phenotypic presentation and implications for mutation detection assays

Molecular Genetics and Metabolism

Volumn 72, Issue 3, 2001, Pages 248-253

  Mao, Rong ^a   O'Brien, John F ^a   Rao, Subramanya ^b   Schmitt, Eric ^c   Roa, Benjamin ^c   Feldman, Gerald L ^d   Spence, W Christine ^e   Snow, Karen ^a  

^a MAYO CLINIC   (United States)

^b Palos Internal Medicine SC   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e GENETICS AND IVF INSTITUTE   (United States)

Author keywords

Gaucher disease; Glucocerebrosidase; N370S; Null allele; glucosidase

Indexed keywords

BETA GLUCOSIDASE; GLUCOSYLCERAMIDASE;

ADULT; ARTICLE; AUTOSOMAL DISORDER; CASE REPORT; DELETION MUTANT; DISEASE SEVERITY; DNA DETERMINATION; EXON; GAUCHER DISEASE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; LYSOSOME STORAGE DISEASE; MALE; NUCLEOTIDE SEQUENCE; NULL ALLELE; PANCYTOPENIA; PHENOTYPE; PRIORITY JOURNAL; PSEUDOGENE; SEQUENCE ANALYSIS; UNIPARENTAL DISOMY;

EID: 0035716684     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.3141     Document Type: Article

References (17)

1. Identification of six new Gaucher disease mutations
2. Gaucher disease
3. Molecular analysis of Gaucher disease: Distribution of eight mutations and the complete gene deletion in 27 patients from Germany
4. Glucosylceremide lipidoses: Gaucher disease
5. Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q23 of chromosome 1 using monoclonal antibodies
6. Molecular cloning and nucleotide sequence of the human glucocerebrosidase cDNA
7. The human glucocerebrosidase gene and pseudogene: Structure and evolution
8. Genetic heterogeneity in type I Gaucher disease: Multiple genotypes in Ashkenazic and non-Ashkenazic individuals
9. Mutations in Jewish patients with Gaucher disease
10. Gaucher's disease: Molecular, genetics, and enzymological aspects
11. Hematologically important mutations: Gaucher disease
12. A novel point mutation (D380A) and a rare deletion (1255de155) in the glucocerebrosidase gene causing Gaucher's disease
13. 55-Base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles
14. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease
15. Modifier genes convert "simple" Mendelian disorders to complex traits
16. Phenotypes of patients with "simple" Mendelian disorders are complex traits: Thresholds, modifiers, and systems dynamics
17. +1 IVS2 + 1 splice site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA