A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews

Martin de Boer; Ronit Gavrieli; Karin van Leeuwen; Haike Reznik Wolf; Maya Dushnitzki; Yifaat Bar-Yosef; Anat Bar-Ziv; Doron Behar; Shlomo Lipitz; Tal Elkan Miller; Anton T. J. Tool; Taco W. Kuijpers; Timo K. van den Berg; Baruch Wolach; Dirk Roos; Elon Pras

doi:10.1136/jmedgenet-2017-105022

A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews

Martin de Boer
, Ronit Gavrieli
, Karin van Leeuwen
, Haike Reznik Wolf
, Maya Dushnitzki
, Yifaat Bar-Yosef
, Anat Bar-Ziv
, Doron Behar
, Shlomo Lipitz
, Tal Elkan Miller
, Anton T. J. Tool
, Taco W. Kuijpers
, Timo K. van den Berg
, Baruch Wolach
, Dirk Roos
, Elon Pras

Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam 1066CX, the Netherlands.
Pediatric Hematology Clinic and the Laboratory for Leukocyte Function, Meir Medical Center, Kfar Saba, Israel and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Genomic Research Center, Gene by Gene, Houston, Texas, USA.
Department of Gynecology, Sheba Medical Center, Ramat Gan, Israel and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Sanquin Research and Landsteiner Laboratory, Department of Blood Cell Research, Amsterdam, The Netherlands. [email protected]

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

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Abstract

NCF1is frequently found, leading to CGD. The same mutation is found in about 1% of Ashkenazi Jews, although Ashkenazi CGD patients with this mutation have never been described. phoxexpression. NCF1with a pseudogene. These results point to the existence of a 'false-carrier' state in Ashkenazi Jews and have wide implications regarding pre-pregnancy screening in this and other population groups

Original language	English
Pages (from-to)	166-172
Number of pages	7
Journal	Journal of medical genetics
Volume	55
Issue number	3
Early online date	2018
DOIs	https://doi.org/10.1136/jmedgenet-2017-105022
Publication status	Published - Mar 2018

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A-false-carrier-state-for-the-c579ggta-mutation-in-the-ncf1-gene-in-ashkenazi-jews.pdfFinal published version, 1.12 MBLicence: Taverne

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de Boer, M., Gavrieli, R., van Leeuwen, K., Wolf, H. R., Dushnitzki, M., Bar-Yosef, Y., Bar-Ziv, A., Behar, D., Lipitz, S., Miller, T. E., Tool, A. T. J., Kuijpers, T. W., van den Berg, T. K., Wolach, B., Roos, D., & Pras, E. (2018). A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews. Journal of medical genetics, 55(3), 166-172. https://doi.org/10.1136/jmedgenet-2017-105022

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title = "A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews",

abstract = "NCF1is frequently found, leading to CGD. The same mutation is found in about 1\% of Ashkenazi Jews, although Ashkenazi CGD patients with this mutation have never been described. phoxexpression. NCF1with a pseudogene. These results point to the existence of a 'false-carrier' state in Ashkenazi Jews and have wide implications regarding pre-pregnancy screening in this and other population groups",

author = "\{de Boer\}, Martin and Ronit Gavrieli and \{van Leeuwen\}, Karin and Wolf, \{Haike Reznik\} and Maya Dushnitzki and Yifaat Bar-Yosef and Anat Bar-Ziv and Doron Behar and Shlomo Lipitz and Miller, \{Tal Elkan\} and Tool, \{Anton T. J.\} and Kuijpers, \{Taco W.\} and \{van den Berg\}, \{Timo K.\} and Baruch Wolach and Dirk Roos and Elon Pras",

year = "2018",

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doi = "10.1136/jmedgenet-2017-105022",

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de Boer, M, Gavrieli, R, van Leeuwen, K, Wolf, HR, Dushnitzki, M, Bar-Yosef, Y, Bar-Ziv, A, Behar, D, Lipitz, S, Miller, TE, Tool, ATJ, Kuijpers, TW , van den Berg, TK, Wolach, B, Roos, D & Pras, E 2018, 'A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews', Journal of medical genetics, vol. 55, no. 3, pp. 166-172. https://doi.org/10.1136/jmedgenet-2017-105022

TY - JOUR

T1 - A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews

AU - de Boer, Martin

AU - Gavrieli, Ronit

AU - van Leeuwen, Karin

AU - Wolf, Haike Reznik

AU - Dushnitzki, Maya

AU - Bar-Yosef, Yifaat

AU - Bar-Ziv, Anat

AU - Behar, Doron

AU - Lipitz, Shlomo

AU - Miller, Tal Elkan

AU - Tool, Anton T. J.

AU - Kuijpers, Taco W.

AU - van den Berg, Timo K.

AU - Wolach, Baruch

AU - Roos, Dirk

AU - Pras, Elon

PY - 2018/3

Y1 - 2018/3

N2 - NCF1is frequently found, leading to CGD. The same mutation is found in about 1% of Ashkenazi Jews, although Ashkenazi CGD patients with this mutation have never been described. phoxexpression. NCF1with a pseudogene. These results point to the existence of a 'false-carrier' state in Ashkenazi Jews and have wide implications regarding pre-pregnancy screening in this and other population groups

AB - NCF1is frequently found, leading to CGD. The same mutation is found in about 1% of Ashkenazi Jews, although Ashkenazi CGD patients with this mutation have never been described. phoxexpression. NCF1with a pseudogene. These results point to the existence of a 'false-carrier' state in Ashkenazi Jews and have wide implications regarding pre-pregnancy screening in this and other population groups

U2 - 10.1136/jmedgenet-2017-105022

DO - 10.1136/jmedgenet-2017-105022

M3 - Article

C2 - 29331982

SN - 0022-2593

VL - 55

SP - 166

EP - 172

JO - Journal of medical genetics

JF - Journal of medical genetics

IS - 3

ER -

A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews

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