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
N1 - Publisher Copyright:
© 2015 American Academy of Neurology.
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.
UR - http://www.scopus.com/inward/record.url?scp=85046981759&partnerID=8YFLogxK
U2 - 10.1212/NXG.0000000000000006
DO - 10.1212/NXG.0000000000000006
M3 - Article
AN - SCOPUS:85046981759
SN - 2376-7839
VL - 1
JO - Neurology: Genetics
JF - Neurology: Genetics
IS - 1
M1 - e6
ER -