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On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
A change in the TSC2 gene was identified in a UDN participant with seizures, developmental regression, and abnormal muscle tone.
Nov 13, 2023
TSC complex sub complex subunit 2
The TSC2 gene codes for a tumor suppressor called tuberin that works in conjunction with hamartin (coded by the TSC1 gene) to form the TSC protein complex (Crino et al. 2006). This complex is involved in an important pathway that regulates anabolic cell growth (Crino et al. 2006).
The TSC2 gene is associated with Tuberous Sclerosis Complex (TSC), an autosomal dominant condition characterized by tumors (specifically hamartomas) in the brain, heart, skin, kidneys, and lungs (Northup et al. 2021). Those affected with TSC also present with seizures, learning and behavioral differences, and renal failure (Northup et al. 2021).
The TSC2 gene is also associated with Focal Cortical Dysplasia type II, a condition characterized by intractable epilepsy and brain malformation (OMIM). While this condition has historically been associated with changes to a different gene, Lim et al. (2017) identified affected individuals with somatic changes in the TSC2 and TSC1 genes.
A homozygous change in this gene was identified in a UDN participant.
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