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^*

^*Corresponding author for this work

Pediatrics

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

150 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 (US)
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 - Aug 8 2008

Funding

We deeply thank the Morris Kahn Family Foundation for making this study possible. This work was also supported by grants from the Israel Science Foundation (431/03) and the Zlotowski Center for Neuroscience to N.Z. We thank Professor Hanna Mandel for the metabolic work-up; Professor Shapira for the analysis of muscle biopsies; Dr. Dan Reich and the team at the Department of Neonatology, Tal Shoshani, for technical assistance; Professor Juan (Moshe) Chemke, Professor Dvora Abeliovich, Dr. Morkos Siman, and Dr. Ahmed Haj-Daud for clinical insights; the families and patients; and the devoted family physicians and pediatricians responsible for the routine medical care of the family members in their communities.

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Access to Document

10.1016/j.ajhg.2008.07.010

Cite this

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

@article{8fb13ba63e12475f877bbbb3f41fe6fc,

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.}",

note = "Funding Information: We deeply thank the Morris Kahn Family Foundation for making this study possible. This work was also supported by grants from the Israel Science Foundation (431/03) and the Zlotowski Center for Neuroscience to N.Z. We thank Professor Hanna Mandel for the metabolic work-up; Professor Shapira for the analysis of muscle biopsies; Dr. Dan Reich and the team at the Department of Neonatology, Tal Shoshani, for technical assistance; Professor Juan (Moshe) Chemke, Professor Dvora Abeliovich, Dr. Morkos Siman, and Dr. Ahmed Haj-Daud for clinical insights; the families and patients; and the devoted family physicians and pediatricians responsible for the routine medical care of the family members in their communities. ",

year = "2008",

month = aug,

day = "8",

doi = "10.1016/j.ajhg.2008.07.010",

language = "English (US)",

volume = "83",

pages = "193--199",

journal = "American journal of human genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "2",

}

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

TY - JOUR

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.

N1 - Funding Information: We deeply thank the Morris Kahn Family Foundation for making this study possible. This work was also supported by grants from the Israel Science Foundation (431/03) and the Zlotowski Center for Neuroscience to N.Z. We thank Professor Hanna Mandel for the metabolic work-up; Professor Shapira for the analysis of muscle biopsies; Dr. Dan Reich and the team at the Department of Neonatology, Tal Shoshani, for technical assistance; Professor Juan (Moshe) Chemke, Professor Dvora Abeliovich, Dr. Morkos Siman, and Dr. Ahmed Haj-Daud for clinical insights; the families and patients; and the devoted family physicians and pediatricians responsible for the routine medical care of the family members in their communities.

PY - 2008/8/8

Y1 - 2008/8/8

N2 - 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.

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.

UR - http://www.scopus.com/inward/record.url?scp=48449105481&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=48449105481&partnerID=8YFLogxK

U2 - 10.1016/j.ajhg.2008.07.010

DO - 10.1016/j.ajhg.2008.07.010

M3 - Article

C2 - 18678320

AN - SCOPUS:48449105481

SN - 0002-9297

VL - 83

SP - 193

EP - 199

JO - American journal of human genetics

JF - American journal of human genetics

IS - 2

ER -

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

Abstract

Funding

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this