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

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@article{49ba0eb991804b6aa022079f96d623a0,
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 = "Adolescent, Adult, Child, Child, Preschool, Female, Heteroplasmy, Humans, Infant, Male, Middle Aged, Mitochondrial Diseases/genetics, Mutation, Pedigree, Penetrance, RNA, Transfer, Glu/genetics, 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 = "Copyright {\textcopyright} 2021 Elsevier Masson SAS. All rights reserved.",
year = "2021",
month = oct,
doi = "10.1016/j.ejmg.2021.104306",
language = "English",
volume = "64",
pages = "104306",
journal = "European Journal of Medical Genetics",
issn = "1769-7212",
publisher = "Elsevier France Editions Scientifiques et Medicales",
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 - Copyright © 2021 Elsevier Masson SAS. All rights reserved.

PY - 2021/10

Y1 - 2021/10

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 - Adolescent

KW - Adult

KW - Child

KW - Child, Preschool

KW - Female

KW - Heteroplasmy

KW - Humans

KW - Infant

KW - Male

KW - Middle Aged

KW - Mitochondrial Diseases/genetics

KW - Mutation

KW - Pedigree

KW - Penetrance

KW - RNA, Transfer, Glu/genetics

KW - Homoplasmy

KW - Mitochondrial disorders

KW - MT-TE

KW - Mt-tRNA

KW - RIRCD

UR - http://www.scopus.com/inward/record.url?scp=85113136577&partnerID=8YFLogxK

U2 - 10.1016/j.ejmg.2021.104306

DO - 10.1016/j.ejmg.2021.104306

M3 - Journal article

C2 - 34400372

VL - 64

SP - 104306

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

SN - 1769-7212

IS - 10

M1 - 104306

ER -

ID: 67847872