Back to Search Start Over

Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level.

Authors :
Amaral O
Fortuna AM
Lacerda L
Pinto R
Sa Miranda MC
Source :
Journal of medical genetics [J Med Genet] 1994 May; Vol. 31 (5), pp. 401-4.
Publication Year :
1994

Abstract

Type 1 Gaucher disease families were studied in an attempt to establish a phenotype/genotype correlation in affected persons and also to identify carriers accurately. In the Portuguese type 1 Gaucher patients, screening for mutations N370S, L444P, R463C, and 1066 + 1 G-->A allowed the identification of 85% of the alleles among unrelated patients. A subclinical case with genotype N370S/1066 + 1 G-->A was identified in one family in which there were three other symptomatic sibs. To our knowledge this is the first subclinical case with a genotype other than N370S/N370S. No genotype-phenotype correlation could be established and considerable clinical heterogeneity was found even among sibs with the same genotype. The data collected on the origins of the Gaucher families indicated two areas in northern Portugal where a higher frequency of the disease may be expected to exist.

Details

Language :
English
ISSN :
0022-2593
Volume :
31
Issue :
5
Database :
MEDLINE
Journal :
Journal of medical genetics
Publication Type :
Academic Journal
Accession number :
8064820
Full Text :
https://doi.org/10.1136/jmg.31.5.401