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

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.

journal_name

J Med Genet

journal_title

Journal of medical genetics

authors

Amaral O,Fortuna AM,Lacerda L,Pinto R,Sa Miranda MC

doi

10.1136/jmg.31.5.401

subject

Has Abstract

pub_date

1994-05-01 00:00:00

pages

401-4

issue

5

eissn

0022-2593

issn

1468-6244

journal_volume

31

pub_type

杂志文章

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