Abstract
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder, caused due to mutations in the TSC1 and TSC2 genes. Mutations in TSC2 gene are more common than in TSC1 gene and mostly they are in the form of large genomic deletions or duplications. The authors report on a novel deletion in TSC2 gene, prenatal diagnosis and genetic counseling in a family with a 3- year- old affected male child. This is the first report on MLPA based mutation analysis of TSC1 and TSC2 genes from India.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Child, Preschool
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Diagnosis, Differential
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Genetic Counseling
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Humans
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India
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Male
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Multiplex Polymerase Chain Reaction*
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Mutation
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Prenatal Diagnosis / methods*
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Sequence Deletion
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Tuberous Sclerosis / diagnosis*
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Tuberous Sclerosis / genetics
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Tuberous Sclerosis Complex 1 Protein
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Tuberous Sclerosis Complex 2 Protein
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Tumor Suppressor Proteins / genetics*
Substances
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TSC1 protein, human
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TSC2 protein, human
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Tuberous Sclerosis Complex 1 Protein
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Tuberous Sclerosis Complex 2 Protein
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Tumor Suppressor Proteins