@article{8fb13ba63e12475f877bbbb3f41fe6fc,
title = "Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9",
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 ∼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 K2P9.1, a member of the two pore-domain potassium channel (K2P) subfamily. The mutation fully abolishes the channel's currents-both when functioning as a homodimer or as a heterodimer with K2P3.1.",
author = "Ortal Barel and Shalev, {Stavit A.} and Rivka Ofir and Asi Cohen and Joel Zlotogora and Zamir Shorer and Galia Mazor and Gal Finer and Shareef Khateeb and Noam Zilberberg and Birk, {Ohad S.}",
note = "Funding Information: We deeply thank the Morris Kahn Family Foundation for making this study possible. This work was also supported by grants from the Israel Science Foundation (431/03) and the Zlotowski Center for Neuroscience to N.Z. We thank Professor Hanna Mandel for the metabolic work-up; Professor Shapira for the analysis of muscle biopsies; Dr. Dan Reich and the team at the Department of Neonatology, Tal Shoshani, for technical assistance; Professor Juan (Moshe) Chemke, Professor Dvora Abeliovich, Dr. Morkos Siman, and Dr. Ahmed Haj-Daud for clinical insights; the families and patients; and the devoted family physicians and pediatricians responsible for the routine medical care of the family members in their communities. ",
year = "2008",
month = aug,
day = "8",
doi = "10.1016/j.ajhg.2008.07.010",
language = "English (US)",
volume = "83",
pages = "193--199",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "2",
}