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Mutational analysis of the TSC2 gene in 23 TSC families from India

Ali, Mahmood and Markandaya, M and Girimaji, SC and Shukla, AK and Sacchidanand, S and Kumar, Arun (2003) Mutational analysis of the TSC2 gene in 23 TSC families from India. In: 53rd Annual Meeting of the American Society of Human Genetics, November 4-8, Convention Center, Los Angeles, U.S.A, p. 2219.


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Tuberous sclerosis complex (TSC) is an autosomal dominant neuro-cutaneous disorder with loci on chromosome 9q34.3 (TSC1) and chromosome 16p13.3 (TSC2). Genes for both loci have been isolated and characterized. Pathologically, tuberous sclerosis complex is a disorder of cell proliferation, differentiation and migration. Clinical symptoms of TSC include cortical tubers, subependymal nodules, mental retardation, seizures, autism, shagreen patches and angiofibromas on the skin, cardiac rhabdomyomas, retinal hamartomas, ungual and peringual fibromas, and cysts and angiomyolipomas in the kidneys. More than 350 mutations have been reported in both TSC genes in patients mainly from the western and Japanese populations. However, there is no report on the mutation analysis of TSC genes in patients from the Indian population. We report here the mutational analysis of the TSC2 gene in 23 TSC families from India. Using PCR-SSCP and DNA sequence analyses, we have screened all 41 exons and promoter region of the TSC2 gene in seven familial and 16 sporadic TSC cases. We have identified a total of 12 mutations representing 25% and 75% of familial and sporadic cases respectively. Of these, eight mutations are novel. Of 12 mutations, 3 are deletions, 2 are insertions, 4 are missense, 2 are splice site and 1 is a nonsense mutation. In addition, we have also detected nine single-nucleotide polymorphisms (SNPs) in the TSC2 gene. Of these three are novel SNPs. There was no correlation between the types of mutations (missense, nonsense, etc.) and the severity of the disease. The mutations were found to be distributed across the gene without any clustering, suggesting that mutation analysis requires scanning of the complete coding sequence of the TSC2 gene (This work was financially supported by a grant from DBT, New Delhi to AK and SCG and a CSIR JRF to MA)

Item Type: Conference Poster
Publisher: Supplement to American Journal of Human Genetics, Oxford University Press, USA
Keywords: Mutation;Tuberous sclerosis;Indian;Deletion;Missense;Nonsense;Insertion
Department/Centre: Division of Biological Sciences > Molecular Reproduction, Development & Genetics
Date Deposited: 01 Mar 2005
Last Modified: 19 Sep 2010 04:12
URI: http://eprints.iisc.ac.in/id/eprint/165

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