Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome

Nikki M. Plaster, Rabi Tawil, Martin Tristani-Firouzi, Sonia Canún, Sad Bendahhou, Akiko Tsunoda, Matthew R. Donaldson, Susan T. Iannaccone, Ewout Brunt, Richard Barohn, John Clark, Feza Deymeer, Alfred L. George, Frank A. Fish, Angelika Hahn, Alexandru Nitu, Coskun Ozdemir, Piraye Serdaroglu, S. H. Subramony, Gil WolfeYing Hui Fu, Louis J. Ptáček

Research output: Contribution to journalArticlepeer-review

848 Scopus citations


Andersen's syndrome is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. We have mapped an Andersen's locus to chromosome 17q23 (maximum LOD = 3.23 at θ = 0 near the inward rectifying potassium channel gene KCNJ2. A missense mutation in KCNJ2 (encoding D71V) was identified in the linked family. Eight additional mutations were identified in unrelated patients. Expression of two of these mutations in Xenopus oocytes revealed loss of function and a dominant negative effect in Kir2.1 current as assayed by voltage-clamp. We conclude that mutations in Kir2.1 cause Andersen's syndrome. These findings suggest that Kir2.1 plays an important role in developmental signaling in addition to its previously recognized function in controlling cell excitability in skeletal muscle and heart.

Original languageEnglish (US)
Pages (from-to)511-519
Number of pages9
Issue number4
StatePublished - May 18 2001

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology


Dive into the research topics of 'Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome'. Together they form a unique fingerprint.

Cite this