Case Report: Evidences of myasthenia and cerebellar atrophy in a chinese patient with novel compound heterozygous MSTO1 variants

Liu, Liqun; Su, Ruiting; Huang, Peng; Li, Xing‐Fang; Xiong, Jie; Xiao, Yao; Mao, Ding-An; Liu, Lingjuan

doi:10.3389/fgene.2022.947886

Cited by 2 publications

(2 citation statements)

References 18 publications

(14 reference statements)

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“…This is the first reported case of FDX2 myopathy with elevated plasma ammonia levels in the acute phase of the initial presentation. Single heterozygous variants in MSTO1 have not so far been associated with specific clinical or laboratory findings, except compound heterozygous variants in MSTO1 correlated with myopathy and ataxia (Li et al, 2020; Liu et al, 2022; Nasca et al, 2017).…”

Section: Discussionmentioning

confidence: 99%

Α rare case of myopathy, lactic acidosis, and severe rhabdomyolysis, due to a homozygous mutation of the ferredoxin‐2 (FDX2) gene

Gkiourtzis

Tramma

Kyriaki

et al. 2023

American J of Med Genetics Pt A

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Mitochondrial myopathy is a severe metabolic myopathy related to nuclear or mitochondrial DNA dysfunction. We present a rare case of mitochondrial myopathy, presented with multiple episodes of proximal muscle weakness, lactic acidosis, and severe rhabdomyolysis (CPK 319,990 U/L, lactic acid 22.31 mmol/L, and GFR 3.82 mL/min/1.73m2). She was hospitalized in the pediatric intensive care unit due to acute kidney injury, elevated blood pressure, and deterioration of respiratory and cardiac function. Investigation for inherited metabolic disorders showed elevated levels of ammonia, lactic acid to pyruvic acid ratio, and urine ketone bodies. Exome sequencing detected a homozygous pathogenic variant in FDX2 (ENST00000541276:p.Met4Leu/c.10A > T) and a heterozygous variant of uncertain significance in MSTO1 (ENST00000538143:p.Leu137Pro/c.410 T > C). After Sanger sequencing, the p.Met4Leu pathogenic variant in FDX2 (ENST00000541276:p.Met4Leu/c.10A > T) was identified in a heterozygous state in both her parents and sister. Recently, pathogenic variants in the FDX2 gene have been associated with mitochondrial myopathy, lactic acidosis, optic atrophy, and leukoencephalopathy. Only four reports of FDX2‐related rhabdomyolysis have been described before, but none of the previous patients had hyperammonemia. This is a rare case of severe mitochondrial myopathy in a pediatric patient related to a pathogenic FDX2 variant, suggesting the need for genetic analysis of the FDX2 gene in cases of suspicion of mitochondrial myopathies.

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Section: Discussionmentioning

confidence: 99%

Α rare case of myopathy, lactic acidosis, and severe rhabdomyolysis, due to a homozygous mutation of the ferredoxin‐2 (FDX2) gene

Gkiourtzis

Tramma

Kyriaki

et al. 2023

American J of Med Genetics Pt A

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“…The patients share common clinical symptoms, such as muscle weakness, hypotonia, and ataxia. Rare features including pigmentary retinopathy, arthrogryposis, and scoliosis had also been reported ( Table 1 ) ( 5 – 15 ). Here, we examined a recessively inherited family with two siblings suffering from cerebellar atrophy and ataxia.…”

Section: Introductionmentioning

confidence: 97%

Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia

et al. 2022

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Misato mitochondrial distribution and morphology regulator 1 (MSTO1) is a nuclear-encoded cytoplasmic protein involved in mitochondrial fusion and distribution. Its disruption causes an extremely rare mitochondrial disorder characterized by early-onset myopathy and cerebellar ataxia. The genotype-phenotype correlation in the MSTO1 gene is rarely studied before 2017, and only 25 mutations have been described in the patients. Here, we reported two siblings with progressive cerebellar atrophy and ataxia in a Chinese family. Two compound heterozygous mutations in the MSTO1 gene, a novel missense mutation c.571C>T (p.Arg191Trp), and a reported frameshift mutation c.1259delG (p.Gly420ValfsTer2) were identified in the patients by whole exome sequencing. in vitro experiments found both of the mutations lead to reduced protein abundance and link to decreased mtDNA content. Except for ataxia and delayed motor, both of the siblings also have low birth weights, learning difficulties, and dysarthria. Our report enriched the genotype and phenotype spectrums of the MSTO1-related disorder and supported the recessive inheritance of the disease.

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Case Report: Evidences of myasthenia and cerebellar atrophy in a chinese patient with novel compound heterozygous MSTO1 variants

Cited by 2 publications

References 18 publications

Α rare case of myopathy, lactic acidosis, and severe rhabdomyolysis, due to a homozygous mutation of the ferredoxin‐2 (FDX2) gene

Α rare case of myopathy, lactic acidosis, and severe rhabdomyolysis, due to a homozygous mutation of the ferredoxin‐2 (FDX2) gene

Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia

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