Role of mutational analysis in diagnosis of tuberous sclerosis complex |
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| Authors: | EA Vail SK Rakowski AL Numis and EA Thiele |
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| Institution: | Department of Neurology, Massachusetts General Hospital, Boston, MA, USA |
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| Abstract: | We describe three cases in whom identification of a disease-causing mutation in the TSC1 or TSC2 gene preceded the appearance or detection of symptoms sufficient for a clinical diagnosis of tuberous sclerosis complex (TSC). We suggest that genetic testing be given a more prominent role in the evaluation of individuals with a family history of TSC or symptoms suggestive of TSC and propose that diagnostic criteria be revised to include genetic testing. |
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| Keywords: | clinical diagnosis genetic mutational analysis TSC1 gene TSC2 gene tuberous sclerosis complex |
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