De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain-Reference-Cited by-同舟云学术

De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain

Published:2014-03-13 Issue:5 Volume:59 Page:292-295
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Ohba Chihiro,Nabatame Shin,Iijima Yoshitaka,Nishiyama Kiyomi,Tsurusaki Yoshinori,Nakashima Mitsuko,Miyake Noriko,Tanaka Fumiaki,Ozono Keiichi,Saitsu Hirotomo,Matsumoto Naomichi

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg201418.pdf

Reference8 articles.

1. Neul, JL, Kaufmann, WE, Glaze, DG, Christodoulou, J, Clarke, AJ, Bahi-Buisson, N et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann. Neurol. 68, 944–950 (2010).

2. Haack, TB, Hogarth, P, Kruer, MC, Gregory, A, Wieland, T, Schwarzmayr, T et al. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am. J. Hum. Genet. 91, 1144–1149 (2012).

3. Kruer, MC, Boddaert, N, Schneider, SA, Houlden, H, Bhatia, KP, Gregory, A et al. Neuroimaging features of neurodegeneration with brain iron accumulation. AJNR Am. J. Neuroradiol. 33, 407–414 (2012).

4. Saitsu, H, Nishimura, T, Muramatsu, K, Kodera, H, Kumada, S, Sugai, K et al. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat. Genet. 45, 445–449 449e441 (2013).

5. Hayflick, SJ, Kruer, MC, Gregory, A, Haack, TB, Kurian, MA, Houlden, HH et al. beta-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain 136, 1708–1717 (2013).

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