Abstract
Tuberous sclerosis complex (TSC) is the second most common primary neurocutaneous syndrome. TSC is an autosomal dominant genetic condition due to mutations in the TSC1 or TSC2 gene. TSC is fully penetrant with intra- and inter-familial variable expressivity. Approximately two-thirds of TSC cases have de novo mutations. TSC is a progressive condition with seizures/infantile spasms, autism with developmental delay, and classic cutaneous manifestations. Complications include tumors of the kidneys, heart, and lungs. Psychiatric symptoms can also be a problem. Families coming for genetic testing need a great deal of support.
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References
Lendvay, T. S., & Marshall, F. F. (2003). The tuberous sclerosis complex and its highly variable manifestations. The Journal of Urology, 169(5), 1635–1642.
Sancak, O., Nellist, M., Goedbloed, M., Elfferich, P., Wouters, C., Maat-Kievit, A., et al. (2005). Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: Genotype–phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. European Journal of Human Genetics, 13(6), 731–741.
Goodman, M., Lamm, S. H., Engel, A., Shepherd, C. W., Hauser, O. W., & Gomez, M. R. (1997). Cortical tuber count: A biomarker indicating neurologic severity of tuberous sclerosis complex. Journal of Child Neurology, 12(2), 85–90.
Manohara, D. (2012). Primary care management of tuberous sclerosis complex in children. Journal of the American Academy of Nurse Practitioners, 24(7), 391–399.
Van Eeghen, A. M., Black, M. E., Pulsifer, M. B., Kwiatkowski, D. J., & Thiele, E. A. (2012). Genotype and cognitive phenotype of patients with tuberous sclerosis complex. European Journal of Human Genetics, 20(5), 510–515.
Strizheva, G. D., Carsillo, T., Kruger, W. D., Sullivan, E. J., Ryu, J. H., & Henske, E. P. (2001). The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis. American Journal of Respiratory and Critical Care Medicine, 163(1), 253–258.
Leung, A. K. C., & Robson, W. L. M. (2007). Tuberous sclerosis complex. A review. Journal of Pediatric Health Care, 21(2), 108–114.
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Bergner, A. (2015). Tuberous Sclerosis. In: Goldman, J. (eds) Genetic Counseling for Adult Neurogenetic Disease. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-7482-2_24
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DOI: https://doi.org/10.1007/978-1-4899-7482-2_24
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