A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency. / Lundquist, Alberte A.; Farholt, Stense; Børresen, Malene L.; Dunø, Morten; Wibrand, Flemming; Witting, Nanna; Østergaard, Elsebet.

In: European Journal of Medical Genetics, Vol. 64, No. 10, 104306, 2021.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Lundquist, AA, Farholt, S, Børresen, ML, Dunø, M, Wibrand, F, Witting, N & Østergaard, E 2021, 'A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency', European Journal of Medical Genetics, vol. 64, no. 10, 104306. https://doi.org/10.1016/j.ejmg.2021.104306

APA

Lundquist, A. A., Farholt, S., Børresen, M. L., Dunø, M., Wibrand, F., Witting, N., & Østergaard, E. (2021). A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency. European Journal of Medical Genetics, 64(10), [104306]. https://doi.org/10.1016/j.ejmg.2021.104306

Vancouver

Lundquist AA, Farholt S, Børresen ML, Dunø M, Wibrand F, Witting N et al. A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency. European Journal of Medical Genetics. 2021;64(10). 104306. https://doi.org/10.1016/j.ejmg.2021.104306

Author

Lundquist, Alberte A. ; Farholt, Stense ; Børresen, Malene L. ; Dunø, Morten ; Wibrand, Flemming ; Witting, Nanna ; Østergaard, Elsebet. / A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency. In: European Journal of Medical Genetics. 2021 ; Vol. 64, No. 10.

Bibtex

@article{52e23223802b494ea79d457e25518909,
title = "A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency",
abstract = "Background: Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial disorder associated with variable penetrance and partial to full remission of symptoms. Objective: To describe features of maternally related individuals with a novel variant associated with RIRCD. Materials and methods: Nine maternally related individuals aged 23 months to 64 years are described through physical examinations, muscle biopsies, histochemical and biochemical analyses, genome sequencing, and cerebral imaging. Results: A homoplasmic mitochondrial transfer ribonucleic acid for glutamic acid (mt-tRNAGlu) m.14701C>T variant was identified in eight tested individuals out of nine maternally related individuals. Two individuals presented with hypotonia, muscle weakness, feeding difficulties and lactic acidosis at age 3–4 months, and improvement around age 15–23 months with mild residual symptoms at last examination. One individual with less severe symptoms had unknown age at onset and improved around age 4–5 years. Five individuals developed lipoma on the upper back, and one adult individual developed ataxia, while one was unaffected. Conclusions: We have identified a novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with phenotypic and paraclinical features associated with RIRCD as well as ataxia and lipomas, which to our knowledge are new features associated to RIRCD.",
keywords = "Homoplasmy, Mitochondrial disorders, MT-TE, Mt-tRNA, RIRCD",
author = "Lundquist, {Alberte A.} and Stense Farholt and B{\o}rresen, {Malene L.} and Morten Dun{\o} and Flemming Wibrand and Nanna Witting and Elsebet {\O}stergaard",
note = "Publisher Copyright: {\textcopyright} 2021 Elsevier Masson SAS",
year = "2021",
doi = "10.1016/j.ejmg.2021.104306",
language = "English",
volume = "64",
journal = "European Journal of Medical Genetics",
issn = "1769-7212",
publisher = "Elsevier Masson",
number = "10",

}

RIS

TY - JOUR

T1 - A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency

AU - Lundquist, Alberte A.

AU - Farholt, Stense

AU - Børresen, Malene L.

AU - Dunø, Morten

AU - Wibrand, Flemming

AU - Witting, Nanna

AU - Østergaard, Elsebet

N1 - Publisher Copyright: © 2021 Elsevier Masson SAS

PY - 2021

Y1 - 2021

N2 - Background: Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial disorder associated with variable penetrance and partial to full remission of symptoms. Objective: To describe features of maternally related individuals with a novel variant associated with RIRCD. Materials and methods: Nine maternally related individuals aged 23 months to 64 years are described through physical examinations, muscle biopsies, histochemical and biochemical analyses, genome sequencing, and cerebral imaging. Results: A homoplasmic mitochondrial transfer ribonucleic acid for glutamic acid (mt-tRNAGlu) m.14701C>T variant was identified in eight tested individuals out of nine maternally related individuals. Two individuals presented with hypotonia, muscle weakness, feeding difficulties and lactic acidosis at age 3–4 months, and improvement around age 15–23 months with mild residual symptoms at last examination. One individual with less severe symptoms had unknown age at onset and improved around age 4–5 years. Five individuals developed lipoma on the upper back, and one adult individual developed ataxia, while one was unaffected. Conclusions: We have identified a novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with phenotypic and paraclinical features associated with RIRCD as well as ataxia and lipomas, which to our knowledge are new features associated to RIRCD.

AB - Background: Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial disorder associated with variable penetrance and partial to full remission of symptoms. Objective: To describe features of maternally related individuals with a novel variant associated with RIRCD. Materials and methods: Nine maternally related individuals aged 23 months to 64 years are described through physical examinations, muscle biopsies, histochemical and biochemical analyses, genome sequencing, and cerebral imaging. Results: A homoplasmic mitochondrial transfer ribonucleic acid for glutamic acid (mt-tRNAGlu) m.14701C>T variant was identified in eight tested individuals out of nine maternally related individuals. Two individuals presented with hypotonia, muscle weakness, feeding difficulties and lactic acidosis at age 3–4 months, and improvement around age 15–23 months with mild residual symptoms at last examination. One individual with less severe symptoms had unknown age at onset and improved around age 4–5 years. Five individuals developed lipoma on the upper back, and one adult individual developed ataxia, while one was unaffected. Conclusions: We have identified a novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with phenotypic and paraclinical features associated with RIRCD as well as ataxia and lipomas, which to our knowledge are new features associated to RIRCD.

KW - Homoplasmy

KW - Mitochondrial disorders

KW - MT-TE

KW - Mt-tRNA

KW - RIRCD

U2 - 10.1016/j.ejmg.2021.104306

DO - 10.1016/j.ejmg.2021.104306

M3 - Journal article

C2 - 34400372

AN - SCOPUS:85113136577

VL - 64

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

SN - 1769-7212

IS - 10

M1 - 104306

ER -

ID: 303572499