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

Erin Conboy; Duygu Selcen; Michael Brodsky; Ralitza Gavrilova; Mai Lan Ho

doi:10.1016/j.spen.2018.04.003

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

Erin Conboy, Duygu Selcen, Michael Brodsky, Ralitza Gavrilova, Mai Lan Ho

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

4 Scopus citations

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 language	English (US)
Pages (from-to)	16-20
Number of pages	5
Journal	Seminars in Pediatric Neurology
Volume	26
DOIs	https://doi.org/10.1016/j.spen.2018.04.003
State	Published - Jul 2018

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Clinical Neurology

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10.1016/j.spen.2018.04.003

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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 Michael Brodsky and Ralitza Gavrilova and {Lan Ho}, Mai",

note = "Publisher Copyright: {\textcopyright} 2018 Elsevier Inc.",

year = "2018",

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language = "English (US)",

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T2 - Expanding the Phenotype

AU - Conboy, Erin

AU - Selcen, Duygu

AU - Brodsky, Michael

AU - Gavrilova, Ralitza

AU - Lan Ho, Mai

PY - 2018/7

Y1 - 2018/7

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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ER -

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

Abstract

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