Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds.

Abstract:

:Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by a combination of neurological symptoms and hamartomatous growths, and caused by mutations in the TSC1 and TSC2 genes. Overall, TSC2 mutations are associated with a more severe disease phenotype. We identified the c.3598C>T (R1200W) change in the TSC2 gene in seven different families. The clinical phenotypes in the families were mild, characterized by mild skin lesions, remitting epilepsy and a lack of severe mental retardation or major organ involvement. Functional analysis of the TSC2 R1200W variant, and four other TSC2 missense variants associated with a mild TSC phenotype, confirmed that the changes disrupted the TSC1-TSC2 function. Interestingly however, in each case, the TSC1-TSC2 interaction was not affected by the amino acid substitution.

journal_name

Clin Genet

journal_title

Clinical genetics

authors

Wentink M,Nellist M,Hoogeveen-Westerveld M,Zonnenberg B,van der Kolk D,van Essen T,Park SM,Woods G,Cohn-Hokke P,Brussel W,Smeets E,Brooks A,Halley D,van den Ouweland A,Maat-Kievit A

doi

10.1111/j.1399-0004.2011.01648.x

subject

Has Abstract

pub_date

2012-05-01 00:00:00

pages

453-61

issue

5

eissn

0009-9163

issn

1399-0004

journal_volume

81

pub_type

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