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Role of mutational analysis in diagnosis of tuberous sclerosis complex
Author(s) -
Vail EA,
Rakowski SK,
Numis AL,
Thiele EA
Publication year - 2009
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2008.01129.x
Subject(s) - tuberous sclerosis , tsc1 , tsc2 , genetic testing , mutation , disease , family history , genetic analysis , medicine , genetics , mutation testing , gene , biology , pathology , apoptosis , pi3k/akt/mtor pathway
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.