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Titolo:
Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: Phenotypic presentation and implications for mutation detectionassays
Autore:
Mao, R; OBrien, JF; Rao, S; Schmitt, E; Roa, B; Feldman, GL; Spence, WC; Snow, K;
Indirizzi:
Mayo Clin, Div Lab Genet, Rochester, MN 55905 USA Mayo Clin Rochester MN USA 55905 , Div Lab Genet, Rochester, MN 55905 USA Palos Int Med SC, Palos Hts, IL USA Palos Int Med SC Palos Hts IL USAPalos Int Med SC, Palos Hts, IL USA Baylor Coll Med, Baylor DNA Diagnost Lab, Houston, TX 77030 USA Baylor Coll Med Houston TX USA 77030 Diagnost Lab, Houston, TX 77030 USA Wayne State Univ, Dept Pathol, Detroit, MI 48202 USA Wayne State Univ Detroit MI USA 48202 Dept Pathol, Detroit, MI 48202 USA Wayne State Univ, Ctr Mol Med & Genet, Detroit, MI 48202 USA Wayne State Univ Detroit MI USA 48202 Med & Genet, Detroit, MI 48202 USA Genet & IVF Inst, Genet Mol Lab, Fairfax, VA 22039 USA Genet & IVF Inst Fairfax VA USA 22039 enet Mol Lab, Fairfax, VA 22039 USA
Titolo Testata:
MOLECULAR GENETICS AND METABOLISM
fascicolo: 3, volume: 72, anno: 2001,
pagine: 248 - 253
SICI:
1096-7192(200103)72:3<248:IOA5DI>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
SIMPLE MENDELIAN DISORDERS; COMPLEX TRAITS; ALLELES; TYPE-1;
Keywords:
beta-glucosidase; glucocerebrosidase; Gaucher disease; null allele; N370S;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
17
Recensione:
Indirizzi per estratti:
Indirizzo: Snow, K Mayo Clin, Div Lab Genet, Hilton 970, Rochester, MN 55905 USA MayoClin Hilton 970 Rochester MN USA 55905 ochester, MN 55905 USA
Citazione:
R. Mao et al., "Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: Phenotypic presentation and implications for mutation detectionassays", MOL GEN MET, 72(3), 2001, pp. 248-253

Abstract

A 55-bp deletion in exon 9 of the glucocerebrosidase gene was identified in a 28-year-old male affected with Gaucher disease. The diagnosis was established during an evaluation for mild pancytopenia and was confirmed by bonemarrow histology and biochemical studies. The patient is of German ancestry. Initial DNA testing indicated homozygosity for the N370S mutation. However, subsequent testing of the patient's parents suggested that the patient and his mother carried a null allele by our assay for N370S. Further molecular studies identified a 55-bp deletion in exon 9 of the glucocerebrosidasegene (8.6767_822de155). This deletion has been previously reported in a patient with severe Gaucher disease (1), and is present in the glucocerebrosidase pseudogene. In the previously reported case, initial DNA testing also suggested the genotype N370S/N370S, but further mutation studies were undertaken because clinical severity was greater than expected for that genotype. In contrast, our patient has an unusually mild clinical course. Thus, clinical severity cannot be reliably used to determine when to test for the presence of the 55-bp deletion. While the 55-bp deletion is not reported to be common, its actual frequency may be underestimated since it eludes detection by many standard clinical assays for Gaucher disease. This report points out the need to consider this deletion mutation which may cause erroneousinterpretation of results in existing assays for the common mutations N370S and LA44P. Furthermore, the importance of recommending parental analysis for individuals who test homozygous for autosomal mutations is highlighted. (C) 2001 Academic Press.

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Documento generato il 08/04/20 alle ore 07:43:57