Referenced in: none

Automatically associated channels: Kir6.2

Title: Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.

Authors: Ortal Barel, Stavit A Shalev, Rivka Ofir, Asi Cohen, Joel Zlotogora, Zamir Shorer, Galia Mazor, Gal Finer, Shareef Khateeb, Noam Zilberberg, Ohad S Birk

Journal, date & volume: Am. J. Hum. Genet., 2008 Aug , 83, 193-9

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/18678320

Abstract
We describe a maternally transmitted genomic-imprinting syndrome of mental retardation, hypotonia, and unique dysmorphism with elongated face. We mapped the disease-associated locus to approximately 7.27 Mb on chromosome 8q24 and demonstrated that the disease is caused by a missense mutation in the maternal copy of KCNK9 within this locus. KCNK9 is maternally transmitted (imprinted with paternal silencing) and encodes K(2P)9.1, a member of the two pore-domain potassium channel (K(2P)) subfamily. The mutation fully abolishes the channel's currents--both when functioning as a homodimer or as a heterodimer with K(2P)3.1.