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


: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.


Clin Genet


Clinical genetics


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




Has Abstract


2012-05-01 00:00:00












  • Refining the phenotype associated with biallelic DNAJC21 mutations.

    abstract::Inherited bone marrow failure syndromes (IBMFS) are caused by mutations in genes involved in genomic stability. Although they may be recognized by the association of typical clinical features, variable penetrance and expressivity are common, and clinical diagnosis is often challenging. DNAJC21, which is involved in ri...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: D'Amours G,Lopes F,Gauthier J,Saillour V,Nassif C,Wynn R,Alos N,Leblanc T,Capri Y,Nizard S,Lemyre E,Michaud JL,Pelletier VA,Pastore YD,Soucy JF

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  • DGAT1 promoter polymorphism associated with alterations in body mass index, high density lipoprotein levels and blood pressure in Turkish women.

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    journal_title:Clinical genetics

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    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Hoppman-Chaney N,Wain K,Seger PR,Superneau DW,Hodge JC

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    journal_title:Clinical genetics

    pub_type: 临床试验,杂志文章


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    更新日期:2002-01-01 00:00:00

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    journal_title:Clinical genetics

    pub_type: 杂志文章,评审


    authors: Vogel F

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    journal_title:Clinical genetics

    pub_type: 杂志文章


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    更新日期:2016-04-01 00:00:00

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    journal_title:Clinical genetics

    pub_type: 杂志文章


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    pub_type: 杂志文章


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    authors: Hayes IM,Collins V,Sahhar M,Wraith JE,Delatycki MB

    更新日期:2007-05-01 00:00:00

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    authors: Schmidt H,Rudolph G,Hergersberg M,Schneider K,Moradi S,Meitinger T

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    authors: Kähkönen M,Leisti J,Thoden CJ,Autio S

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    authors: Namba M,Nakatsuka S,Etoh H,Kataoka N,Kimoto T

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    pub_type: 杂志文章


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    pub_type: 杂志文章,多中心研究


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    pub_type: 杂志文章,评审


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    pub_type: 杂志文章


    authors: Kuijpers AL,Pfundt R,Zeeuwen PL,Molhuizen HO,Mariman EC,van de Kerkhof PC,Schalkwijk J

    更新日期:1998-07-01 00:00:00

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    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Bois E,Feingold J,Demenais F,Runavot Y,Jehanne M,Toudic L

    更新日期:1978-08-01 00:00:00

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    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Arnason A,Jensson O,Gudmundsson S

    更新日期:1975-05-01 00:00:00

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    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: da-Silva EO,Batista JE,Medeiros MA,Fonteles SM

    更新日期:1993-07-01 00:00:00

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    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Morley DJ,Weaver DD,Garg BP,Markand O

    更新日期:1982-06-01 00:00:00

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    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Evans DG,Young K,Bulman M,Shenton A,Wallace A,Lalloo F

    更新日期:2008-04-01 00:00:00