Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9

Ortal Barel; Stavit A. Shalev; Rivka Ofir; Asi Cohen; Joel Zlotogora; Zamir Shorer; Galia Mazor; Gal Finer; Shareef Khateeb; Noam Zilberberg; Ohad S. Birk

doi:10.1016/j.ajhg.2008.07.010

Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9

Ortal Barel, Stavit A. Shalev, Rivka Ofir, Asi Cohen, Joel Zlotogora, Zamir Shorer, Galia Mazor, Gal Finer, Shareef Khateeb, Noam Zilberberg, Ohad S. Birk

Research output: Contribution to journal › Article › peer-review

145 Scopus citations

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 ∼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_2P9.1, 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_2P3.1.

Original language	English
Pages (from-to)	193-199
Number of pages	7
Journal	American Journal of Human Genetics
Volume	83
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2008.07.010
State	Published - 8 Aug 2008

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Barel, O., Shalev, S. A., Ofir, R., Cohen, A., Zlotogora, J., Shorer, Z., Mazor, G., Finer, G., Khateeb, S., Zilberberg, N., & Birk, O. S. (2008). Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9. American Journal of Human Genetics, 83(2), 193-199. https://doi.org/10.1016/j.ajhg.2008.07.010

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title = "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 ∼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 K2P9.1, a member of the two pore-domain potassium channel (K2P) subfamily. The mutation fully abolishes the channel's currents-both when functioning as a homodimer or as a heterodimer with K2P3.1.",

author = "Ortal Barel and Shalev, {Stavit A.} and Rivka Ofir and Asi Cohen and Joel Zlotogora and Zamir Shorer and Galia Mazor and Gal Finer and Shareef Khateeb and Noam Zilberberg and Birk, {Ohad S.}",

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Barel, O, Shalev, SA, Ofir, R, Cohen, A, Zlotogora, J, Shorer, Z, Mazor, G, Finer, G, Khateeb, S, Zilberberg, N & Birk, OS 2008, 'Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9', American Journal of Human Genetics, vol. 83, no. 2, pp. 193-199. https://doi.org/10.1016/j.ajhg.2008.07.010

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T1 - Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9

AU - Barel, Ortal

AU - Shalev, Stavit A.

AU - Ofir, Rivka

AU - Cohen, Asi

AU - Zlotogora, Joel

AU - Shorer, Zamir

AU - Mazor, Galia

AU - Finer, Gal

AU - Khateeb, Shareef

AU - Zilberberg, Noam

AU - Birk, Ohad S.

PY - 2008/8/8

Y1 - 2008/8/8

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AB - 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 ∼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 K2P9.1, a member of the two pore-domain potassium channel (K2P) subfamily. The mutation fully abolishes the channel's currents-both when functioning as a homodimer or as a heterodimer with K2P3.1.

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AN - SCOPUS:48449105481

SN - 0002-9297

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EP - 199

JO - American Journal of Human Genetics

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IS - 2

ER -

Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9

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