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DNA mutational analysis of type 1 and type 3 gaucher patients: How well do mutations predict phenotype?
Author(s) -
Sidransky Ellen,
Bottler Anja,
Stubblefield Barbara,
Ginns Edward I.
Publication year - 1994
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380030105
Subject(s) - glucocerebrosidase , biology , genotype , genetics , mutation , phenotype , disease , genotype phenotype distinction , genetic counseling , gene , genetic heterogeneity , population , medicine , environmental health
The wide spectrum of clinical manifestations resulting from glucocerebrosidase deficiency complicates genetic counseling for Gaucher disease. The identification of mutations in the glucocerebrosidase gene has enabled studies of genotype–phenotype correlation. However, a genotypic analysis of 60 type 1 and type 3 Gaucher patients reveals that the 5 most common Gaucher mutations, N370S, L444P, R463C, 84insG, and IVS2 + 1 G→A, can be found both in patients with and without neurologic manifestations. Moreover, although some generalizations can be made about mutations that are more frequently encountered in particular patient populations, Gaucher patients sharing identical genotypes can exhibit considerable clinical heterogeneity. Thus in considering rationale for population screening one cannot rely solely on PCR determined DNA mutation analysis to reliably predict prognosis in Gaucher disease. © 1994 WiIey‐Liss, Inc. © 1994 Wiley‐Liss, Inc.