Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele.

doi:10.1007/s10545-011-9307-7

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Article

Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele.

Journal of inherited metabolic disease - 1 Jun 2011

Balwani Manisha, Grace Marie E, Desnick Robert J

Abstract excerpt

We report a 31 year old woman who had prenatal carrier screening for Ashkenazi Jewish (AJ) genetic diseases and was found to have two acid ß-glucosidase (GBA) mutations, c.1226A>G(p.N370S) and c.1448T>C(p.L444P), consistent with the diagnosis of Type 1 Gaucher disease (GD1). This genotype typically manifests in late-adolescence with hepatosplenomegaly and early-onset bone involvement. The Proband had a normal...

Topics

Adult
Alleles
Diagnosis, Differential
Female
Gaucher Disease
Glucosylceramidase
Humans
Molecular Diagnostic Techniques
Physical Examination
Polymorphism, Single Nucleotide

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PMID: 21431620
DOI: 10.1007/s10545-011-9307-7
PMCID: PMC3269069

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