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A new interesting article has been published in Hum Mutat. 2019 Dec 4. doi: 10.1002/humu.23963. and titled:

Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.

Authors of this article are:

Dufner Almeida LG, Nanhoe S, Zonta A, Hosseinzadeh M, Kom-Gortat R, Elfferich P, Schaaf G, Kenter A, Kümmel D, Migone N, Povey S, Ekong R, Nellist M.

A summary of the article is shown below:

The TSC1 and TSC2 gene products interact to form the tuberous sclerosis complex (TSC), an important negative regulator of the mechanistic target of rapamycin complex 1 (TORC1). Inactivating mutations in TSC1 or TSC2 cause TSC, and the identification of a pathogenic TSC1 or TSC2 variant helps establish a diagnosis of TSC. However, it is not always clear whether TSC1 and TSC2 variants are inactivating. To determine whether TSC1 and TSC2 variants of uncertain clinical significance affect TSC complex function and cause TSC, in vitro assays of TORC1 activity can be employed. Here we combine genetic, functional, and structural approaches to try and classify a series of 15 TSC2 VUS. We investigated the effects of the variants on the formation of the TSC complex, on TORC1 activity and on TSC2 pre-mRNA splicing. In 13 cases (87%), the functional data supported the hypothesis that the identified TSC2 variant caused TSC. Our results illustrate the benefits and limitations of functional testing for TSC.© 2019 The Authors. Human Mutation Published by Wiley Periodicals, Inc.

Check out the article’s website on Pubmed for more information:

This article is a good source of information and a good way to become familiar with topics such as: CRISPR/Cas9; TORC1; TSC2; VUS; functional assay; tuberous sclerosis complex.

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