Open AccessComprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants
Author(s) -
Selma Demır,
Sinem Yalçıntepe,
Engin Atlı,
Yelda Yalçın,
Emine İkbal Atlı,
Damla Eker,
Yasemin Karal,
Hakan Gürkan
Publication year - 2021
Publication title -
balkan medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.398
H-Index - 16
eISSN - 2146-3131
pISSN - 2146-3123
DOI - 10.5152/balkanmedj.2021.21092
Subject(s) - tsc1 , tuberous sclerosis , tsc2 , genetics , biology , population , gene , genetic testing , medicine , pathology , apoptosis , environmental health , pi3k/akt/mtor pathway
Tuberous Sclerosis Complex is an autosomal dominant multi-system disorder with an incidence of about 1 in 6000 live births. Defects in either TSC1 (* 605284) or TSC2 (* 191092) genes encoding the components of the Tuberous Sclerosis Complex are responsible for the disease. Therefore, consideration of TSC1/TSC2 pathogenic variations is recommended in the updated diagnostic criteria of Tuberous Sclerosis Complex.