Respiratory chain deficiency in nonmitochondrial disease

Angela Pyle; Helen J. Nightingale; Helen Griffin; Angela Abicht; Janbernd Kirschner; Ivo Baric; Mario Cuk; Konstantinos Douroudis; Lea Feder; Markus Kratz; Birgit Czermin; Stephanie Kleinle; Mauro Santibanez-Koref; Veronika Karcagi; Elke Holinski-Feder; Patrick F. Chinnery; Rita Horvath

doi:10.1212/NXG.0000000000000006

Respiratory chain deficiency in nonmitochondrial disease

Angela Pyle, Helen J. Nightingale, Helen Griffin, Angela Abicht, Janbernd Kirschner, Ivo Baric, Mario Cuk, Konstantinos Douroudis, Lea Feder, Markus Kratz, Birgit Czermin, Stephanie Kleinle, Mauro Santibanez-Koref, Veronika Karcagi, Elke Holinski-Feder, Patrick F. Chinnery, Rita Horvath^*

^*Corresponding author for this work

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

19 Citations (Scopus)

Abstract

Objective: In this study, we report 5 patients with heterogeneous phenotypes and biochemical evidence of respiratory chain (RC) deficiency; however, the molecular diagnosis is not mitochon-drial disease. Methods: The reported patients were identified from a cohort of 60 patients in whom RC enzyme deficiency suggested mitochondrial disease and underwent whole-exome sequencing. Results: Five patients had disease-causing variants in nonmitochondrial disease genes ORAI1, CAPN3, COLQ, EXOSC8, and ANO10, which would have been missed on targeted next-generation panels or on MitoExome analysis. Conclusions: Our data demonstrate that RC abnormalities may be secondary to various cellular processes, including calcium metabolism, neuromuscular transmission, and abnormal messenger RNA degradation.

Original language	English
Article number	e6
Journal	Neurology: Genetics
Volume	1
Issue number	1
DOIs	https://doi.org/10.1212/NXG.0000000000000006
Publication status	Published - Jun 2015
Externally published	Yes

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Pyle, A., Nightingale, H. J., Griffin, H., Abicht, A., Kirschner, J., Baric, I., Cuk, M., Douroudis, K., Feder, L., Kratz, M., Czermin, B., Kleinle, S., Santibanez-Koref, M., Karcagi, V., Holinski-Feder, E., Chinnery, P. F., & Horvath, R. (2015). Respiratory chain deficiency in nonmitochondrial disease. Neurology: Genetics, 1(1), Article e6. https://doi.org/10.1212/NXG.0000000000000006

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title = "Respiratory chain deficiency in nonmitochondrial disease",

abstract = "Objective: In this study, we report 5 patients with heterogeneous phenotypes and biochemical evidence of respiratory chain (RC) deficiency; however, the molecular diagnosis is not mitochon-drial disease. Methods: The reported patients were identified from a cohort of 60 patients in whom RC enzyme deficiency suggested mitochondrial disease and underwent whole-exome sequencing. Results: Five patients had disease-causing variants in nonmitochondrial disease genes ORAI1, CAPN3, COLQ, EXOSC8, and ANO10, which would have been missed on targeted next-generation panels or on MitoExome analysis. Conclusions: Our data demonstrate that RC abnormalities may be secondary to various cellular processes, including calcium metabolism, neuromuscular transmission, and abnormal messenger RNA degradation.",

author = "Angela Pyle and Nightingale, {Helen J.} and Helen Griffin and Angela Abicht and Janbernd Kirschner and Ivo Baric and Mario Cuk and Konstantinos Douroudis and Lea Feder and Markus Kratz and Birgit Czermin and Stephanie Kleinle and Mauro Santibanez-Koref and Veronika Karcagi and Elke Holinski-Feder and Chinnery, {Patrick F.} and Rita Horvath",

note = "Publisher Copyright: {\textcopyright} 2015 American Academy of Neurology.",

year = "2015",

month = jun,

doi = "10.1212/NXG.0000000000000006",

language = "English",

volume = "1",

journal = "Neurology: Genetics",

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TY - JOUR

T1 - Respiratory chain deficiency in nonmitochondrial disease

AU - Pyle, Angela

AU - Nightingale, Helen J.

AU - Griffin, Helen

AU - Abicht, Angela

AU - Kirschner, Janbernd

AU - Baric, Ivo

AU - Cuk, Mario

AU - Douroudis, Konstantinos

AU - Feder, Lea

AU - Kratz, Markus

AU - Czermin, Birgit

AU - Kleinle, Stephanie

AU - Santibanez-Koref, Mauro

AU - Karcagi, Veronika

AU - Holinski-Feder, Elke

AU - Chinnery, Patrick F.

AU - Horvath, Rita

PY - 2015/6

Y1 - 2015/6

N2 - Objective: In this study, we report 5 patients with heterogeneous phenotypes and biochemical evidence of respiratory chain (RC) deficiency; however, the molecular diagnosis is not mitochon-drial disease. Methods: The reported patients were identified from a cohort of 60 patients in whom RC enzyme deficiency suggested mitochondrial disease and underwent whole-exome sequencing. Results: Five patients had disease-causing variants in nonmitochondrial disease genes ORAI1, CAPN3, COLQ, EXOSC8, and ANO10, which would have been missed on targeted next-generation panels or on MitoExome analysis. Conclusions: Our data demonstrate that RC abnormalities may be secondary to various cellular processes, including calcium metabolism, neuromuscular transmission, and abnormal messenger RNA degradation.

AB - Objective: In this study, we report 5 patients with heterogeneous phenotypes and biochemical evidence of respiratory chain (RC) deficiency; however, the molecular diagnosis is not mitochon-drial disease. Methods: The reported patients were identified from a cohort of 60 patients in whom RC enzyme deficiency suggested mitochondrial disease and underwent whole-exome sequencing. Results: Five patients had disease-causing variants in nonmitochondrial disease genes ORAI1, CAPN3, COLQ, EXOSC8, and ANO10, which would have been missed on targeted next-generation panels or on MitoExome analysis. Conclusions: Our data demonstrate that RC abnormalities may be secondary to various cellular processes, including calcium metabolism, neuromuscular transmission, and abnormal messenger RNA degradation.

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U2 - 10.1212/NXG.0000000000000006

DO - 10.1212/NXG.0000000000000006

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SN - 2376-7839

VL - 1

JO - Neurology: Genetics

JF - Neurology: Genetics

IS - 1

M1 - e6

ER -

Respiratory chain deficiency in nonmitochondrial disease

Abstract

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