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Phenotypic and genotypic heterogeneity in gaucher disease: Implications for genetic counseling
Author(s) -
Sidransky Ellen,
Ginns Edward I.
Publication year - 1994
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1007/bf01414603
Subject(s) - genetic counseling , glucocerebrosidase , disease , genetic heterogeneity , genotype , human genetics , medicine , genetic testing , genetics , phenotype , biology , gene , pathology
Abstract Genetic counseling for Gaucher disease is complicated by the vast degree of clinical heterogeneity encountered in the disorder. Recent advances in our understanding of the molecular genetics of Gaucher disease are particularly relevant to genetic counseling. Although the identification of mutations in the glucocerebrosidase gene has enabled genotypic screening of Gaucher patients, the ability to reliably predict patient outcome on the basis of DNA studies is often limited. An appreciation of both the spectrum of clinical manifestations in Gaucher patients and the limitations of the available genotypic information is necessary when counseling patients, families and at‐risk individuals.