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July 24, 2012; 79 (4) Articles

A candidate gene for autoimmune myasthenia gravis

Guida Landouré, Melanie A. Knight, Horia Stanescu, Addis A. Taye, Yijun Shi, Oumarou Diallo, Janel O. Johnson, Dena Hernandez, Bryan J. Traynor, Leslie G. Biesecker, For the NIH Intramural Sequencing Center, Abdel Elkahloun, Carlo Rinaldi, Angela Vincent, Nick Willcox, Robert Kleta, Kenneth H. Fischbeck, Barrington G. Burnett
First published June 27, 2012, DOI: https://doi.org/10.1212/WNL.0b013e318260cbd0
Guida Landouré
MD, PhD
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Melanie A. Knight
PhD
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Horia Stanescu
MD, PhD
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Addis A. Taye
BS
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Yijun Shi
BS
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Oumarou Diallo
MD
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Janel O. Johnson
PhD
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Dena Hernandez
MSc
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Bryan J. Traynor
MD
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Leslie G. Biesecker
MD
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Abdel Elkahloun
PhD
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Carlo Rinaldi
MD
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Angela Vincent
MD, MSc, FRCPath, FRS
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Nick Willcox
MD, PhD
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Robert Kleta
MD, PhD
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Kenneth H. Fischbeck
MD
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Barrington G. Burnett
PhD
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Full PDF
Citation
A candidate gene for autoimmune myasthenia gravis
Guida Landouré, Melanie A. Knight, Horia Stanescu, Addis A. Taye, Yijun Shi, Oumarou Diallo, Janel O. Johnson, Dena Hernandez, Bryan J. Traynor, Leslie G. Biesecker, For the NIH Intramural Sequencing Center, Abdel Elkahloun, Carlo Rinaldi, Angela Vincent, Nick Willcox, Robert Kleta, Kenneth H. Fischbeck, Barrington G. Burnett
Neurology Jul 2012, 79 (4) 342-347; DOI: 10.1212/WNL.0b013e318260cbd0

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Abstract

Objective: We sought to identify a causative mutation in a previously reported kindred with parental consanguinity and 5 of 10 siblings with adult-onset autoimmune myasthenia gravis.

Methods: We performed genome-wide homozygosity mapping, and sequenced all known genes in the one region of extended homozygosity. Quantitative and allele-specific reverse transcriptase PCR (RT-PCR) were performed on a candidate gene to determine the RNA expression level in affected siblings and controls and the relative abundance of the wild-type and mutant alleles in a heterozygote.

Results: A region of shared homozygosity at chromosome 13q13.3–13q14.11 was found in 4 affected siblings and 1 unaffected sibling. A homozygous single nucleotide variant was found in the 3′-untranslated region of the ecto-NADH oxidase 1 gene (ENOX1). No other variants likely to be pathogenic were found in genes in this region or elsewhere. The ENOX1 sequence variant was not found in 764 controls. Quantitative RT-PCR showed that expression of ENOX1 decreased to about 20% of normal levels in lymphoblastoid cells from individuals homozygous for the variant and to about 50% in 2 unaffected heterozygotes. Allele-specific RT-PCR showed a 55%–60% reduction in the level of the variant transcript in heterozygous cells due to reduced mRNA stability.

Conclusion: These results indicate that this sequence variant in ENOX1 may contribute to the familial autoimmune myasthenia in these patients.

GLOSSARY

AChR=
acetylcholine receptor;
MG=
myasthenia gravis;
NAD=
nicotinamide adenine dinucleotide;
qRT-PCR=
quantitative reverse transcriptase PCR;
RT-PCR=
reverse transcriptase PCR

Footnotes

  • Study funding: Supported by intramural funds from the National Institute of Neurological Disorders and Stroke at the NIH and the National Human Genome Research Institute.

  • Editorial, page 304

  • Supplemental data at www.neurology.org

  • Received September 16, 2011.
  • Accepted December 14, 2011.
  • Copyright © 2012 by AAN Enterprises, Inc.
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