Maternally inherited Birk barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9
Maternally inherited Birk barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9
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DOI：
10.1016/j.ajhg.2008.07.010
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发表时间：
2008-08-08
影响因子：
9.8
通讯作者：
Birk, Ohad S.
中科院分区：
文献类型：
--
作者：
Barel, Ortal;Shalev, Stavit A.;Birk, Ohad S.
我们描述了一个母系遗传的基因组印记综合征的精神发育迟滞，肌张力减退，和独特的畸形与拉长的脸。我们将疾病相关基因定位在染色体8 q24上的7.27 Mb处，并证明该疾病是由该基因座内KCNK 9的母亲拷贝中的错义突变引起的。KCNK 9是母系传递的（带有父系沉默的印记），编码K（2 P）9.1，是双孔结构域钾通道（K-2 P）亚家族的成员。该突变完全消除了通道的电流，无论是作为同源二聚体还是作为异源二聚体与K（2 P）3.1。
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.