C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation

被引：0

作者：

Lausberg, Eva ^{[1
]}

Giesselmann, Sebastian ^{[1
]}

Dewulf, Joseph P. ^{[2
]}

Wiame, Elsa ^{[2
]}

Holz, Anja ^{[3
,4
]}

Salvarinova, Ramona ^{[5
]}

Van Karnebeek, Clara ^{[6
]}

Klemm, Patricia ^{[7
]}

Ohl, Kim ^{[7
]}

Mull, Michael ^{[8
]}

Braunschweig, Till ^{[9
]}

Weis, Joachim ^{[10
]}

Sommer, Clemens ^{[11
]}

Demuth, Stephanie ^{[12
]}

Haase, Claudia ^{[13
]}

Stollbrink-Peschgens, Claudia ^{[7
]}

Debray, Francois-Guillaume ^{[14
]}

Libioulle, Cecile ^{[14
]}

Choukair, Daniela ^{[15
]}

Oommen, Prasad T. ^{[16
]}

Borkhardt, Arndt ^{[16
]}

Surowy, Harald ^{[17
]}

Wieczorek, Dagmar ^{[17
]}

Wagner, Norbert

Meyer, Robert ^{[1
]}

Eggermann, Thomas ^{[1
]}

Begemann, Matthias ^{[1
]}

Van Schaftingen, Emile ^{[2
]}

Haeusler, Martin ^{[7
]}

Tenbrock, Klaus ^{[7
]}

Van Den Heuvel, Lambert ^{[18
]}

Elbracht, Miriam ^{[1
]}

Kurth, Ingo ^{[1
]}

Kraft, Florian ^{[1
]}

机构：

[1] Uniklin RWTH Aachen, Inst Human Genet, Aachen, Germany

[2] UC Louvain, Lab Physiol Chem, Duve Inst, Brussels, Belgium

[3] CeGaT GmbH, Tubingen, Germany

[4] Praxis Humangenet, Tubingen, Germany

[5] British Columbia Childrens Hosp Vancouver, Dept Pediat, Div Biochem Dis, Vancouver, BC, Canada

[6] Univ British Columbia, Ctr Mol Med & Therapeut, Dept Pediat, Vancouver, BC, Canada

[7] Rhein Westfal TH Aachen, Dept Pediat, Aachen, Germany

[8] Rhein Westfal TH Aachen, Fac Med, Dept Diagnost & Intervent Neuroradiol, Aachen, Germany

[9] Rhein Westfal TH Aachen, Inst Pathol, Fac Med, Aachen, Germany

[10] RWTH Univ Hosp, Inst Neuropathol, Fac Med, Aachen, Germany

[11] Johannes Gutenberg Univ Mainz, Inst Neuropathol, Univ Med Ctr, Mainz, Germany

[12] Praxis Humangenet Erfurt, Erfurt, Germany

[13] HELIOS Klinikum Erfurt, Ambulanz Angeborene Stoffwechselerkrankungen, Sozialpadiat Zentrum, Erfurt, Germany

[14] CHU Liege, Dept Human Genet, Liege, Belgium

[15] Heidelberg Univ, Univ Childrens Hosp, Dept Gen Pediat, Heidelberg, Germany

[16] Heinrich Heine Univ Dusseldorf, Univ Childrens Hosp, Med Fac, Dept Pediat Oncol Hematol & Clin Immunol, Dusseldorf, Germany

[17] Heinrich Heine Univ, Inst Human Genet, Dusseldorf, Germany

[18] Radboudumc, Dept Lab Med, Dept Pediat, Translat Metab Lab, Nijmegen, Netherlands

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2022年 / 30卷 / SUPPL 1期

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

C26.5

引用

页码：86 / 87

页数：2

共 8 条

[1] C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation
Lausberg, Eva
Giesselmann, Sebastian
Dewulf, Joseph P.
Wiame, Elsa
Holz, Anja
Salvarinova, Ramona
van Karnebeek, Clara D.
Klemm, Patricia
Ohl, Kim
Mull, Michael
Braunschweig, Till
Weis, Joachim
Sommer, Clemens J.
Demuth, Stephanie
Haase, Claudia
Stollbrink-Peschgens, Claudia
Debray, Francois-Guillaume
Libioulle, Cecile
Choukair, Daniela
Oommen, Prasad T.
Borkhardt, Arndt
Surowy, Harald
Wieczorek, Dagmar
Wagner, Norbert
Meyer, Robert
Eggermann, Thomas
Begemann, Matthias
Van Schaftingen, Emile
Hausler, Martin
Tenbrock, Klaus
van den Heuvel, Lambert
Elbracht, Miriam
Kurth, Ingo
Kraft, Florian
JOURNAL OF CLINICAL INVESTIGATION, 2021, 131 (12):
[2] Biallelic missense variants in C2orf69 cause mitochondrial dysfunction associated with early-onset neurodegeneration and autoinflammation
Oh, R.
Maier, M.
Blaser, S.
Cameron, J.
Lafreniere, A.
Hawkins, C.
Reversade, B.
Yoon, G.
NEUROMUSCULAR DISORDERS, 2024, 43
[3] C2orf69 deficiency causes fatal autoinflammatory Mendelian disorder
Dengler, V. L.
GENETICS IN MEDICINE, 2021, 23 (10) : 1792 - 1792
[4] Homozygous missense variant in C2orf69 causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation
Oh, Rachel Youjin
Maier, Michael
Blaser, Susan
Cameron, Jessie
Hawkins, Cynthia
Reversade, Bruno
Yoon, Grace
JOURNAL OF MEDICAL GENETICS, 2025,
[5] Identification of Human Hepatocyte Proliferation Related Gene C2orf69
Ren-wen Zhang
Yong Qiao
Xiao-hua Hao
Hong-min Li
Hui Ren
Xiao-jing Zhang
Hong-shan Wei
Xiao-yuan Xu
Infection International(Electronic Edition), 2014, 3 (01) : 1 - 9
[6] Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca2+
Venco, Paola
Bonora, Massimo
Giorgi, Carlotta
Papaleo, Elena
Iuso, Arcangelo
Prokisch, Holger
Pinton, Paolo
Tiranti, Valeria
FRONTIERS IN GENETICS, 2015, 6
[7] Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function
Claudio R. Cortés
Aideen M. McInerney-Leo
Ida Vogel
Maria C. Rondón Galeano
Paul J. Leo
Jessica E. Harris
Lisa K. Anderson
Patricia A. Keith
Matthew A. Brown
Mette Ramsing
Emma L. Duncan
Andreas Zankl
Carol Wicking
Scientific Reports, 6
[8] Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function
Cortes, Claudio R.
McInerney-Leo, Aideen M.
Vogel, Ida
Galeano, Maria C. Rondon
Leo, Paul J.
Harris, Jessica E.
Anderson, Lisa K.
Keith, Patricia A.
Brown, Matthew A.
Ramsing, Mette
Duncan, Emma L.
Zankl, Andreas
Wicking, Carol
SCIENTIFIC REPORTS, 2016, 6

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