Adult and infantile Gaucher disease in one family: mutational studies and clinical update.
Molecular analysis and clinical updates are provided on a previously reported mother and adult son with Gaucher disease; two other children died with acute neuronopathic (type 2) Gaucher disease. The mother and son have the identical genotype (370/444) but very different clinical manifestations. These findings illustrate the need for additional studies before families with newly diagnosed Gaucher disease undergo counseling.
Shahinfar
M
M
Department of Medicine (Medical Genetics), Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107.
Wenger
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DA
D000328:Adult; D000483:Alleles; D001483:Base Sequence; D004247:DNA / Q000032:analysis*; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis / Q000235:genetics*; D005784:Gene Amplification; D005817:Genetic Counseling; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D015394:Molecular Structure; D009154:Mutation; D001617:beta-Glucosidase / Q000235:genetics
D004247:DNA; D001617:beta-Glucosidase