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 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.
authors.affiliation: The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben Gurion University, Beer-Sheva 84105, Israel.
authors.forename: Ortal
authors.initials: O
authors.lastname: Barel
authors.forename: Stavit A
authors.initials: SA
authors.lastname: Shalev
authors.forename: Rivka
authors.initials: R
authors.lastname: Ofir
authors.forename: Asi
authors.initials: A
authors.lastname: Cohen
authors.forename: Joel
authors.initials: J
authors.lastname: Zlotogora
authors.forename: Zamir
authors.initials: Z
authors.lastname: Shorer
authors.forename: Galia
authors.initials: G
authors.lastname: Mazor
authors.forename: Gal
authors.initials: G
authors.lastname: Finer
authors.forename: Shareef
authors.initials: S
authors.lastname: Khateeb
authors.forename: Noam
authors.initials: N
authors.lastname: Zilberberg
authors.forename: Ohad S
authors.initials: OS
authors.lastname: Birk
mesh_terms: D000818:Animals; D002898:Chromosomes, Human, Pair 8; D005260:Female; D008040:Genetic Linkage; D018392:Genomic Imprinting; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats; D009035:Mothers; D009154:Mutation; D011110:Polymorphism, Genetic; D024683:Potassium Channels, Tandem Pore Domain / Q000235:genetics*; D013577:Syndrome; D014982:Xenopus laevis
chemical_list: C498655:KCNK9 protein, human; D024683:Potassium Channels, Tandem Pore Domain