Congenital lymphedema as a rare and first symptom of tuberous sclerosis complex.

Congenital lymphedema as a rare and first symptom of tuberous sclerosis complex. Gene. 2020 May 29;:144815 Authors: Klinner J, Krüger M, Brunet T, Makowski C, Riedhammer KM, Mollweide A, Wagner M, Hoefele J Abstract Lymphedema are characterized by interstitial edema leading to swelling of extremities. They can be divided into primary and secondary lymphedema. Developmental abnormalities of the lymphatic system are responsible for the primary form of lymphedema. The secondary form of lymphedema is caused by damage of the lymphatic system due to external factors. Lymphedema can rarely be observed in patients with tuberous sclerosis complex (TSC), which is a neurocutaneous syndrome caused by pathogenic variants in the genes TSC1 or TSC2. Patients with TSC usually present with neurological manifestations and the development of multiple benign tumors of ectodermal origin. Typical onset for several symptoms is during the first year of life and in some cases lesions can be detected prenatally. Epilepsy is one of the most common manifestations, affecting up to 90% of TSC patients, and is associated with developmental delay. Early pharmacotherapy improves long term patient outcome. Trio exome sequencing was performed in a 3 weeks old girl with congenital lymphedema of the right lower extremity. Using a filter for de novo variants, the heterozygous missense variant c.2524C>T, p.(Gln842Ter) in TSC1 (NM_000368.4) could be identified. After t...
Source: Gene - Category: Genetics & Stem Cells Authors: Tags: Gene Source Type: research