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Article

Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients.

BMC medical genetics - 10 Oct 2017

Scheiper Stefanie, Hertel Brigitte, Beckmann Britt-Maria, Kääb Stefan, Thiel Gerhard, Kauferstein Silke

Abstract excerpt

BACKGROUND: Mutations in the KCNJ2 gene encoding the ion channel Kir2.1 have been linked to the Andersen-Tawil syndrome (ATS). Molecular genetic screening performed in a family exhibiting clinical ATS phenotypes unmasked a novel sequence variant (c.434A > G, p.Y145C) in this gene. The aim of this study was to investigate the effect of this variant on Kir2.1 ion channel functionality. METHODS: Mutant as well as...

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Identifiers

PMID: 29017447
DOI: 10.1186/s12881-017-0472-x
PMCID: PMC5634867

Genes

KCNJ2

Provenance

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