Comprehensive mutation analysis of TSC1 (ital) and TSC2 (ital)--and phenotypic correlations in 150 families with tuberous sclerosis

Article Abstract:

Tuberous sclerosis (TSC), characterized by hamartomas in many organs, is an autosomal dominant disorder for which 2/3 of cases seem to be from new mutations. The mutations affect one of the presumed tumor-suppressor genes, TSC1 (ital) and TSC2 (ital). A comprehensive mutation analysis has been undertaken for the two genes in 250 unrelated TSC patients and their families. Intelligence was affected significantly more frequently in TSC2 (ital) sporadic cases than in TSC1 (ital) sporadic cases. All TSC1 (ital) mutations were predicted to be truncating.

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A missense mutation in the human connexin50 gene (GJA8 (ital)) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q

Article Abstract:

A missense mutation in the human connexin50 gene (GJA8(ital)) on chromosome 1q brings on autosomal dominant "zonular pulverulent" cataract. Genetic refinement of the CZP1 (ital) locus has been undertaken successfully. LInkage analysis was undertaken using microsatellite markers on two distantly related branches of the original eight-generation Ev. pedigree. Evidence now exists for the genetic defect thought to underlie the first inherited disease to be linked to a human autosome.

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Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies

Article Abstract:

Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies is discussed. The PAX6 gene produces two possible splice isoforms which bind respective consensus DNA sequences. The subdomains are the N-terminal and the C-terminal subdomains. DNA-binding activity of the mutated form is described.

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