Evidence that lymphangiomyomatosis is caused by TSC2 (ital) mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis

Article Abstract:

Evidence that lymphangiomyomatosis (LAM) is caused by TSC2 (ital) mutations has been found but genetic transmission of LAM has not been reported. On chromosome 16p13 loss of heterozygosity has been found in angiomyolipomas and lymph nodes of women with LAM, a rare disease which involves diffuse proliferation of smooth muscle cells and can only be treated by transplanting lungs. LAM may or may not be associated with tuberous sclerosis complex (TSC), an autosomal dominant tumor suppressor gene syndrome. Loss of heterozygosity is found in the chromosomal region for the TSC2 (ital) gene in 60% of tuberous sclerosis complex (TSC)-associated angiomyolipomas. It seems pathogenesis of sporadic LAM may be related to TSC2 (ital). Women with LAM may have low-penetrance germ-line TSC2 (ital) mutations or may be mosaic, having TSC2 (ital) mutations in the kidney and lungs and not in other organs.

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Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients

Article Abstract:

Ninety patients with tuberous sclerosis complex (TSC) have been studied to see if they have subtle mutations in the TSC2 gene. Single-strand conformational analysis (SSCA) was used. For each patient, each of the 41 exons of the TSC2 gene was tested; 32 SSCA changes were found. There were 22 mutations that were disease-causing and 10 polymorphic variants were found. Many more mutations were found in the sporadic cases than in the multiplex families. Only one mutation was found in the eight families for which linkage to the TSC2 region had ben established. Mutations were distributed uniformly on the gene.

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Germ-line mosaicism in tuberous sclerosis: how common?

Article Abstract:

Research findings may help direct genetic counseling for families exhibiting sporadic incidents of tuberous sclerosis. Variant sequencing revealed two nonsense mutations, two frameshift mutations and one missense mutation. These findings, coupled with loss-of-heterozygosity studies and linkage analysis, can determine paternal or maternal origin within a family unit and establish germ-line mosaicism.

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