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Am J Hum Genet
2008 Aug 01;832:193-9. doi: 10.1016/j.ajhg.2008.07.010.
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Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.
Barel O
,
Shalev SA
,
Ofir R
,
Cohen A
,
Zlotogora J
,
Shorer Z
,
Mazor G
,
Finer G
,
Khateeb S
,
Zilberberg N
,
Birk OS
.
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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 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.
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