Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease

Article Abstract:

A mutation profile and genotype/phenotype correlations in Gaucher's disease have been found. Mutations alone cannot entirely predict the expression phenotypically. Exhaustive screening of the acid beta-glucosidase gene was carried out using fluorescence-assisted mismatch analysis and universal primers and 25 subjects. For the mutation search an approach using association of a universal strand-specific labeling system and fluorescent chemical cleavage of mismatches was chosen, and 18 different mutations and a new glococerebrosidase haplotype were found. Genotyping has limitations for prognosis in view of the multifactorial regulation for the disease. Gaucher's disease is very prevalent vs all lysosomal storage disorders. It is a genetic disease that can now be treated. High molecular diversity is seen except in the community of Ashkenazi Jews.

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Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum

Article Abstract:

Genetic heterogeneity, prevalence and mutation spectrum of early-onset autosomal dominant Alzheimer disease (EOAD) are discussed. A population-based study was carried out in Rouen, France, with EOAD defined as onset before the age of 61 and autosomal dominant forms of EOAD (ADEOAD) defined as at least three EOAD cases in three generations. In 19 of 34 ADEOAD families 16 distinct presenilin 1 (PSET1 (ital)) missense mutations including four not already reported were identified. It was shown that PSEN1 (ital) and amyloid precursor protein (APP (ital)) mutations account for 71% of ADEOAD families and that nonpenetrance before 61 years in likely infrequent for those mutations.

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Identification of constitutional MT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database

Article Abstract:

Constitutional MT1 mutations have been found in patients with isolated diffuse mesangial sclerosis (DMA) or Denys-Drash syndrome. A computerized mutation database has been used for analysis of correlations of genotypes and phenotypes. A series of 24 patients was analyzed. Ten had isolated DMS (IDMS), ten had DDS, and 4 had urogenital abnormalities and/or Wilms tumor (WT). WT1 heterozygous mutations were found in 16 patients, of whom four presented with IDMS.

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