A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report-Reference-Cited by-同舟云学术

A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report

Published:2017-06-08 Issue:1 Volume:18 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Nishimura Motoi^ORCID,Ueda Marehiko,Ebata Ryota,Utsuno Emi,Ishii Takuma,Matsushita Kazuyuki,Ohara Osamu,Shimojo Naoki,Kobayashi Yoshio,Nomura Fumio

Funder

Japan Society for the Promotion of Science

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-017-0430-7.pdf

Reference31 articles.

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2. Sanguinetti MC, Curran ME, Zou A, Shen J, Spector PS, Atkinson DL, et al. Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel. Nature. 1996;384(6604):80–3. doi: 10.1038/384080a0 .

3. Lee MP, Hu RJ, Johnson LA, Feinberg AP. Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements. Nat Genet. 1997;15(2):181–5. doi: 10.1038/ng0297-181 .

4. Zehelein J, Kathoefer S, Khalil M, Alter M, Thomas D, Brockmeier K, et al. Skipping of exon 1 in the KCNQ1 gene causes jervell and Lange-Nielsen syndrome. J Biol Chem. 2006;281(46):35397–403. doi: 10.1074/jbc.M603433200 .

5. Schwartz PJ, Crotti L, Insolia R. Long-QT syndrome: from genetics to management. Circ Arrhythm Electrophysiol. 2012;5(4):868–77. doi: 10.1161/CIRCEP.111.962019 .

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