A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome
Author:
Funder
Japan Agency for Medical Research and Development
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
Link
http://www.nature.com/articles/s41439-019-0046-x.pdf
Reference12 articles.
1. Christianson, A. L. et al. X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27. J. Med. Genet. 36, 759–766 (1999).
2. Schroer, R. J. et al. Natural history of Christianson syndrome. Am. J. Med. Genet. A. 152A, 2775–2783 (2010).
3. Gilfillan, G. D. et al. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am. J. Hum. Genet. 82, 1003–1010 (2008).
4. Deane, E. C. et al. Enhanced recruitment of endosomal Na+/H+ exchanger NHE6 into Dendritic spines of hippocampal pyramidal neurons during NMDA receptor-dependent long-term potentiation. J. Neurosci. 33, 595–610 (2013).
5. Takahashi, Y. et al. A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome. Am. J. Med. Genet. B. Neuropsychiatr. Genet. 156B, 799–807 (2011).
Cited by 8 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Functional analysis of two SLC9A6 frameshift variants in lymphoblastoid cells from patients with Christianson syndrome;CNS Neuroscience & Therapeutics;2023-06-28
2. Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report;Medicina;2022-02-26
3. Case Report: Novel SLC9A6 Splicing Variant in a Chinese Boy With Christianson Syndrome With Electrical Status Epilepticus During Sleep;Frontiers in Neurology;2022-01-14
4. Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods;Human Mutation;2021-12-02
5. Christianson syndrome: A novel splicing variant of SLC9A6 causes exon skipping in a Chinese boy and a literature review;Journal of Clinical Laboratory Analysis;2021-11-17
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