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Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

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Date
2015-01-01
Author
McGaughran, Julie
Shen, Joseph
Cleary, John G.
Grimmond, Sean M.
King, Glenn F.
Yuksel, Adnan
Guler, Serhat
Yesil, Gozde
Taft, Ryan J.
Gabbett, Michael T.
Simons, Cas
Rash, Lachlan D.
Crawford, Joanna
Ma, Linlin
Cristofori-Armstrong, Ben
Miller, David
Ru, Kelin
Baillie, Gregory J.
Alanay, Yasemin
Jacquinet, Adeline
Debray, Francois-Guillaume
Verloes, Alain
Advisor
Type
Article
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Abstract
Temple-Baraitser syndrome (TBS) is a multisystem developmental disorder characterized by intellectual disability, epilepsy, and hypoplasia or aplasia of the nails of the thumb and great toe(1,2). Here we report damaging de novo mutations in KCNH1 (encoding a protein called ether a go-go, EAG1 or K(V)10.1), a voltage-gated potassium channel that is predominantly expressed in the central nervous system (CNS), in six individuals with TBS. Characterization of the mutant channels in both Xenopus laevis oocytes and human HEK293T cells showed a decreased threshold of activation and delayed deactivation, demonstrating that TBS-associated KCNH1 mutations lead to deleterious gain of function. Consistent with this result, we find that two mothers of children with TBS, who have epilepsy but are otherwise healthy, are low-level (10% and 27%) mosaic carriers of pathogenic KCNH1 mutations. Consistent with recent reports(3-8), this finding demonstrates that the etiology of many unresolved CNS disorders, including epilepsies, might be explained by pathogenic mosaic mutations.
Subject
Simons C., Rash L. D. , Crawford J., Ma L., Cristofori-Armstrong B., Miller D., Ru K., Baillie G. J. , Alanay Y., Jacquinet A., et al., -Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy-, NATURE GENETICS, cilt.47, ss.73-0, 2015
URI
https://hdl.handle.net/20.500.12645/7234
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BEZMIALEM VAKIF UNIVERSITY

About us |Policies | Library | Contact us | Send Feedback | Sitemap | Admin

Bezmialem Vakıf Üniversitesi, Adnan Menderes Bulvarı Vatan Caddesi 34093 Fatih, İstanbul / TURKEY
Copyright © Bezmialem Vakıf Üniversitesi

Creative Commons Lisansı
Bezmialem Institutional Repository, Creative Commons Alıntı-GayriTicari-Türetilemez 4.0 Uluslararası Lisansı ile lisanslanmıştır.

OpenAccess@BVU

Support by  UNIREPOS