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01-06-2009 | Letter to the Editor

Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease

Authors: M. A. Torralba, J. I. Pérez-Calvo

Published in: Journal of Inherited Metabolic Disease | Issue 3/2009

Excerpt

We have read with interest the article by Fairley and colleagues on the phenotypic heterogeneity of N370S (c.1226A>G) homozygotes among type I Gaucher patients (Fairley et al 2008). Accordingly, it seems that N370S homozygotes, as compared with N370S compound heterozygotes, tend to express a more attenuated phenotype, although a subgroup of the former exhibited more severe clinical manifestations including severe thrombocytopenia in 9%. …

Beutler E, Gelbart T (1994) Erroneous assignment of Gaucher’s Disease genotype as a consequence of a complete gene deletion. Hum Mutat 4: 212–216. doi:10.1002/humu.1380040307.PubMedCrossRef

Beutler E, Gelbart T, West C (1993) Identification of six new Gaucher disease mutations. Genomics 15: 203–205. doi:10.1006/geno.1993.1035.PubMedCrossRef

Fairley C, Zimran A, Phillips M, et al (2008) Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry. J Inherit Metab Dis 31: 738–744. doi:10.1007/s10545-008-0868-z.PubMedCrossRef

Torralba MA, Alfonso P, Pérez-Calvo JI, et al (2002) High prevalence of the 55-bp deletion (c.1263del55) in exon 9 of the glucocerebrosidase gene causing misdiagnosis (for homozygous N370S (c.1226A>G) mutation) in Spanish Gaucher Disease patients. Blood Cells Mol Dis 29: 35–40. doi:10.1006/bcmd.2002.0535.PubMedCrossRef

Title: Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease
Authors: M. A. Torralba
J. I. Pérez-Calvo
Publication date: 01-06-2009
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 3/2009
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-009-1114-z

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