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Article

Mosaic KCNJ2 mutation in Andersen-Tawil syndrome: targeted deep sequencing is useful for the detection of mosaicism.

Clinical genetics - 1 Mar 2015

Hasegawa K, Ohno S, Kimura H, Itoh H, Makiyama T, Yoshida Y, Horie M

Abstract excerpt

Andersen-Tawil syndrome (ATS) is an inherited disease characterized by ventricular arrhythmias, periodic paralysis, and dysmorphic features. It results from a heterozygous mutation of KCNJ2, but little is known about mosaicism in ATS. We performed genetic analysis of KCNJ2 in 32 ATS probands and their family members and identified KCNJ2 mutations in 25 probands, 20 families who underwent extensive genetic...

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Identifiers

PMID: 24635491
DOI: 10.1111/cge.12357

Genes

KCNJ2

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