Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 83, Issue 2, Pages 193-199Publisher
CELL PRESS
DOI: 10.1016/j.ajhg.2008.07.010
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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 similar 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 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.
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