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.
Original language | English (US) |
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Pages (from-to) | 193-199 |
Number of pages | 7 |
Journal | American journal of human genetics |
Volume | 83 |
Issue number | 2 |
DOIs | |
State | Published - Aug 8 2008 |
Funding
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.
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)