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Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Am+J+Hum+Genet 2008 ; 83 (2): 193-9 Nephropedia Template TP
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Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9 #MMPMID18678320
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]