Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype

European Journal of Human Genetics

Volumn 12, Issue 11, 2004, Pages 975-978

  Church, Heather J ^a   Cooper, Alan ^a   Stewart, Fiona ^b   Thornton, Claire M ^c   Wraith, J Edmund ^a  

^a ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^b BELFAST CITY HOSPITAL   (United Kingdom)

^c ROYAL GROUP OF HOSPITALS TRUST   (United Kingdom)

Author keywords

Gaucher's disease; Hydrops fetalis; Lysosomal storage disorder; Mutation analysis

Indexed keywords

CYSTEINE; GLUCOSYLCERAMIDASE;

ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME ACTIVITY; EXON; FAMILIAL INCIDENCE; FEMALE; FETUS; FETUS HYDROPS; GAUCHER DISEASE; GENE LOCATION; GENE LOSS; GENOTYPE; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PHENOTYPE; PREDICTION; PRIORITY JOURNAL;

CONSANGUINITY; CYSTEINE; FEMALE; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HOMOZYGOTE; HUMANS; PEDIGREE; PREGNANCY; PREGNANCY, HIGH-RISK;

HYDROPS;

EID: 7744221824     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201251     Document Type: Article

References (13)

1. Beutler E, Grabowski GA: Gaucher disease; in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease 2001, 8th edn, vol 3: pp 3635-3668.
2. Cox TM, Schofield JP: Gaucher's disease: clinical features and natural history; in Zimran A (ed): Balliere's Clinical Haematology: Gaucher's Disease 1997, vol 10:4: pp 657-689.
3. Erikson A, Bembi B, Schiffmann R: Neuronopathic forms of Gaucher's disease; in Zimran A (ed): Balliere's Clinical Haematology: Gaucher's Disease 1997, vol 10:4: pp 711-723.
4. Stone DL, Van Digglen OP, De Klerk JBC et al: Is the perinatal lethal form of Gaucher disease more common than classic Type 2 Gaucher disease? Eur J Human Genet 1999; 7: 505-509.
5. Stone DL, Carey WF, Christodoulou J et al: Type 2 Gaucher disease: the collodion baby phenotype revisited. Arch Dis Child Fetal Neonatal Ed 2000; 82: F163-F166.
6. Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E: Glucocerebrosidase gene mutations in patients with Type 2 Gaucher disease. Hum Mutat 2000; 15: 181-188.
7. Mignot C, Gelot B, Bessières B et al: Perinatal-lethal Gaucher disease. Am J Med Genet 2003; 120A: 338-344.
8. Finn LS, Zhang M, Chen SH, Scott CR: Severe Type II Gaucher disease with ichthyosis, arthrogryposis and neurological apoptosis: molecular and pathological analysis. Am J Med Genet 2000; 91: 222-226.
9. Hatton CE, Cooper A, Whitehouse C, Wraith JE: Mutation analysis in 46 British and Irish patients with Gaucher's disease. Arch Dis Child 1997; 77: 17-22.
10. Eyal N, Wilder S, Horowitz M: Prevalant and rare mutations among Gaucher patients. Gene 1990; 96: 277-283.
11. Bodamer OAF, Church HJ, Cooper A, Wraith JE, Scott CR, Scaglia F: Variant Gaucher disease characterised by dysmorphic features, absence of cardiovascular involvement, laryngospasm and compound heterozygosity for a novel mutation (D409H/C16S). Am J Med Genet 2002; 109: 328-331.
12. Dvir H, Harel M, McCarthy A et al: X-ray structure of human acid-β-glucosidase, the defective enzyme in Gaucher disease. EMBO Rep 2003; 4: 704-707.
13. Grabowski GA, Horowitz M: Gaucher's disease: molecular, genetic and enzymological aspects; in Zimran A (ed): Balliere's Clinical Haematology: Gaucher's Disease 1997, vol 10:4: pp 635-656.