Maternally inherited Birk barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9

被引:143
作者
Barel, Ortal [1 ]
Shalev, Stavit A. [2 ,3 ,4 ]
Ofir, Rivka [1 ]
Cohen, Asi [5 ,6 ]
Zlotogora, Joel [7 ]
Shorer, Zamir [8 ]
Mazor, Galia [2 ,3 ,4 ]
Finer, Gal [1 ]
Khateeb, Shareef [1 ]
Zilberberg, Noam [5 ,6 ]
Birk, Ohad S. [1 ,8 ]
机构
[1] Ben Gurion Univ Negev, Natl Inst Biotechnol Negev, Morris Kahn Lab Human Genet, IL-84105 Beer Sheva, Israel
[2] Emek Med Ctr, Genet Inst, Afula, Israel
[3] Emek Med Ctr, Child Dev Ctr, Afula, Israel
[4] Technion Israel Inst Technol, Rappaport Fac Med, IL-18101 Haifa, Israel
[5] Ben Gurion Univ Negev, Dept Life Sci, IL-84105 Beer Sheva, Israel
[6] Ben Gurion Univ Negev, Zlotowski Ctr Neurosci, IL-84105 Beer Sheva, Israel
[7] Minist Hlth, Publ Hlth Serv, Dept Community Genet, IL-52662 Ramat Gan, Israel
[8] Soroka Med Ctr, Genet Inst, IL-84101 Beer Sheva, Israel
基金
以色列科学基金会;
关键词
D O I
10.1016/j.ajhg.2008.07.010
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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 similar to 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.
引用
收藏
页码:193 / 199
页数:7
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