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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.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Barel O,Shalev SA,Ofir R,Cohen A,Zlotogora J,Shorer Z,Mazor G,Finer G,Khateeb S,Zilberberg N,Birk OS

doi

10.1016/j.ajhg.2008.07.010

subject

Has Abstract

pub_date

2008-08-01 00:00:00

pages

193-9

issue

2

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(08)00410-2

journal_volume

83

pub_type

杂志文章

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