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

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2008年 / 83卷 / 02期

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

页码：193 / 199

页数：7

共 28 条

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