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10.1016/j.ajhg.2008.07.010

http://scihub22266oqcxt.onion/10.1016/j.ajhg.2008.07.010
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suck abstract from ncbi


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pmid18678320      Am+J+Hum+Genet 2008 ; 83 (2): 193-9
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  • Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9 #MMPMID18678320
  • Barel O; Shalev SA; Ofir R; Cohen A; Zlotogora J; Shorer Z; Mazor G; Finer G; Khateeb S; Zilberberg N; Birk OS
  • Am J Hum Genet 2008[Aug]; 83 (2): 193-9 PMID18678320show ga
  • 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.
  • |*Genomic Imprinting[MESH]
  • |*Mutation[MESH]
  • |*Polymorphism, Genetic[MESH]
  • |Animals[MESH]
  • |Chromosomes, Human, Pair 8[MESH]
  • |Female[MESH]
  • |Genetic Linkage[MESH]
  • |Humans[MESH]
  • |Intellectual Disability/*genetics[MESH]
  • |Male[MESH]
  • |Microsatellite Repeats[MESH]
  • |Mothers[MESH]
  • |Potassium Channels, Tandem Pore Domain/*genetics[MESH]
  • |Syndrome[MESH]


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