Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype

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Abstract

A 7-year-old boy with family history of consanguinity presented with developmental delay and recurrent hemiplegia involving both sides of the body, with variable facial and ocular involvement. Brain MRI showed bilateral striatal necrosis with cystic degeneration and lactate peaks on spectroscopy. Biochemical testing demonstrated mildly elevated lactate and pyruvate. Whole-exome sequencing revealed a novel homozygous pathogenic frameshift mutation in gene TTC19, diagnostic of mitochondrial complex III deficiency.

Original languageEnglish (US)
Pages (from-to)16-20
Number of pages5
JournalSeminars in Pediatric Neurology
Volume26
DOIs
StatePublished - Jul 1 2018

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Lactic Acid
Stroke
Exome
Phenotype
Consanguinity
Corpus Striatum
Frameshift Mutation
Hemiplegia
Pyruvic Acid
Spectrum Analysis
Necrosis
Brain
Genes
Mitochondrial Complex III Deficiency

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

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title = "Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype",
abstract = "A 7-year-old boy with family history of consanguinity presented with developmental delay and recurrent hemiplegia involving both sides of the body, with variable facial and ocular involvement. Brain MRI showed bilateral striatal necrosis with cystic degeneration and lactate peaks on spectroscopy. Biochemical testing demonstrated mildly elevated lactate and pyruvate. Whole-exome sequencing revealed a novel homozygous pathogenic frameshift mutation in gene TTC19, diagnostic of mitochondrial complex III deficiency.",
author = "Erin Conboy and Duygu Selcen and Brodsky, {Michael C} and Gavrilova, {Ralitza M} and {Lan Ho}, Mai",
year = "2018",
month = "7",
day = "1",
doi = "10.1016/j.spen.2018.04.003",
language = "English (US)",
volume = "26",
pages = "16--20",
journal = "Seminars in Pediatric Neurology",
issn = "1071-9091",
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T1 - Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes

T2 - Expanding the Phenotype

AU - Conboy, Erin

AU - Selcen, Duygu

AU - Brodsky, Michael C

AU - Gavrilova, Ralitza M

AU - Lan Ho, Mai

PY - 2018/7/1

Y1 - 2018/7/1

N2 - A 7-year-old boy with family history of consanguinity presented with developmental delay and recurrent hemiplegia involving both sides of the body, with variable facial and ocular involvement. Brain MRI showed bilateral striatal necrosis with cystic degeneration and lactate peaks on spectroscopy. Biochemical testing demonstrated mildly elevated lactate and pyruvate. Whole-exome sequencing revealed a novel homozygous pathogenic frameshift mutation in gene TTC19, diagnostic of mitochondrial complex III deficiency.

AB - A 7-year-old boy with family history of consanguinity presented with developmental delay and recurrent hemiplegia involving both sides of the body, with variable facial and ocular involvement. Brain MRI showed bilateral striatal necrosis with cystic degeneration and lactate peaks on spectroscopy. Biochemical testing demonstrated mildly elevated lactate and pyruvate. Whole-exome sequencing revealed a novel homozygous pathogenic frameshift mutation in gene TTC19, diagnostic of mitochondrial complex III deficiency.

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