Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry-Reference-Cited by-同舟云学术

Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry

Published:2015-08-05 Issue:4 Volume:24 Page:550-555
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Protasova Maria S,Grigorenko Anastasia P,Tyazhelova Tatiana V,Andreeva Tatiana V,Reshetov Denis A,Gusev Fedor E,Laptenko Alexander E,Kuznetsova Irina L,Goltsov Andrey Y,Klyushnikov Sergey A,Illarioshkin Sergey N,Rogaev Evgeny I

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2015139.pdf

Reference49 articles.

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2. Najm J, Horn D, Wimplinger I et al: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet 2008; 40: 1065–1067.

3. Nadif Kasri N, Nakano-Kobayashi A, Malinow R, Li B, Van Aelst L : The Rho-linked mental retardation protein oligophrenin-1 controls synapse maturation and plasticity by stabilizing AMPA receptors. Genes Dev 2009; 23: 1289–1302.

4. Zanni G, Calì T, Kalscheuer VM et al: Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. Proc Natl Acad Sci USA 2012; 109: 14514–14519.

5. Caramins M, Colebatch JG, Bainbridge MN et al: Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1). Hum Mol Genet 2013; 22: 4329–4338.

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