Structure of the GM2A (ital) gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2

Article Abstract:

The structure of the GM2A (ital) gene has been studied with the result that an exon 2 nonsense mutation was identified and a naturally occurring transcript with an in-frame exon 2 was found. The GM2 activator protein is lacking in the rare AB-variant form of GM2 gangliosidosis. A new patient from a Laotian deme has been found to have cells deficient in both GM2-activator mRNA and protein. Reverse transcription (RT)-PCR found some normal-sized cDNA and a smaller cDNA type not seen in the RT-PCR products of normal controls. Although the patient's normal-sized cDNA contained a single nonsense mutation in exon 2, his smaller cDNA came from an in-frame exon 2 deletion. An artifact of RT-PCR causes reestablishment of an open reading frame in some cases.

United States, Tay-Sachs disease

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Functional characterization of missense mutations in ATP7B (ital): Wilson disease mutation or normal variant?

Article Abstract:

Wilson's disease, an autosomal recessive copper transport disorder that brings on hepatic and/or neurological disease, is discussed with information about functional characterization of missense mutations in ATP7B (ital). A yeast complementation assay has been developed in a project to find the effect of Wilson disease missense mutations on ATP7B function because 100+ mutations have been found in the ATP7B (ital) gene in those with the disease and of two putative ATP7B (ital) normal variants tested, one brought a nonfunctional protein, suggesting a disease-causing mutation.

Usage, Chromosome mapping, Copper in the body, Copper (Nutrient), Wilson's disease

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