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CORRECTION article

Front. Neurol., 09 November 2021

Sec. Neurogenetics

Volume 12 - 2021 | https://doi.org/10.3389/fneur.2021.792230

Corrigendum: A Novel Variation in the Mitochondrial Complex I Assembly Factor NDUFAF5 Causes Isolated Bilateral Striatal Necrosis in Childhood

    HB

    Hongyan Bi 1*

    HG

    Hui Guo 2

    QW

    Qianfei Wang 3

    XZ

    Xiao Zhang 1

    YZ

    Yaming Zhao 1

    JL

    Jimei Li 1

    WZ

    Weiqin Zhao 1

    HT

    Houzhen Tuo 1

    YZ

    Yongbo Zhang 1

  • 1. Department of Neurology, Beijing Friendship Hospital, Capital Medical University, Beijing, China

  • 2. Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China

  • 3. CAS Key Laboratory of Genomic and Precision Medicine, Collaborative Innovation Center of Genetics and Development, Beijing Institute of Genomics, Chinese Academy of Sciences (CAS), Beijing, China

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Error in Table

On a recent occasion, we realized that in the original article, there was a mistake in Table 1 as published. The citation numbers in the Table 1 referring to the NDUFAF5 mutations in various ethnic groups did not match the given reference order list in the published article. In Table 1, (1) reference 26 should be reference (1); (2) reference 27 should be reference 30; (3) reference 28 should be reference (2); (4) reference 12 should be reference 31; (5) reference 29 should be reference 32; and (6) reference 13 should be reference (3). The corrected Table 1 appears below.

Table 1

References Ethnicity Sex* Mutation Onset age Clinical features MRI findings Outcome
Saada et al. (1) Ashkenazi Jewish M c.749G>T, c.749G>T 12 m Motor development retardation, ataxia, bilateral ptosis, optic atrophy, diffuse hypotonia Symmetrical lesions of bilateral basal ganglia, striatum and cortical areas Death at ~2.5 y
Ashkenazi Jewish M c.749G>T, c.749G>T 12 m Death at ~6 y
Ashkenazi Jewish F c.749G>T, c.749G>T 12 m Death at ~4.5 y
Ashkenazi Jewish F c.749G>T, c.749G>T 12 m Death at ~6 y
Ashkenazi Jewish F c.749G>T, c.749G>T 12 m Death at ~7 y
Fang et al. (30) Chinese c.212C>T, c.698G>T Developmental delay and regression, seizures Bilateral lesions of brainstem and basal ganglia
Sugiana et al. (2) Egyptian M c.719T>C, c.719T>C Birth Intrauterine growth retardation, facial dysmorphism, corpus callosum agenesis, ventricular septation, left diaphragmatic hernia, adrenal insufficiency – Death at ~7 d
Tong et al. (31) Chinese F c.145C>G, c.836T>G 8 m Neurodevelopmental delay, swallowing dysfunction, dyspnea Bilateral medulla oblongata lesions Death at 21 m
Gerards et al. (32) Moroccan M c.477A>C, c.477A>C 3 y Dysarthria, dystonic posture, spastic quadriplegia, mental retardation Caudate, putamen, substantia nigra and peri-aqueductal grey area lesions, bifrontal atrophy Alive at 23 y
Moroccan M c.477A>C, c.477A>C 3 y Alive at 29 y
Simon et al. (3) Taiwanese F c.155A>C, c.836T>G 6 m Developmental delay, global hypotonia, difficulty swallowing Symmetrical thalamic and midbrain lesions, corpus callosum dysgenesis Death at 27 m
Taiwanese F c.836T>G, c.836T>G 27 m Vision loss, strabismus, nystagmus, muscle weakness, inability to walk Hyperintense lesions in posterior fossa, caudate and cervical spinal cord Death at 19 y
Caucasian M c.327G>C, c.223–907A>C 3 m Seizures, hypotonia, loss of vision, feeding difficulty T2 hyperintensity in thalamus, midbrain, upper spinal cord Death at 8 m
Ashkenazi Jewish M c.327G>C, c.749G>T 5 m Torticollis, nystagmus, swallowing and feeding difficulty Bilateral lesions in thalamus, putamen and frontal lobes Death at 17 m
This pedigree Chinese F c.425A > C, c.836T > G 6y Generalized dystonia, spastic quadriplegia, dysphagia and dysarthria Alive at 23 y
Chinese F c.425A > C, c.836T > G 6y Generalized dystonia, optic atrophy, dysphagia and dysarthria Abnormal symmetric signals in the posterior region of the bilateral putamen Alive at 20 y
Chinese F c.425A > C, c.836T > G 6y Generalized dystonia, febrile convulsions (1-3 y), dysphagia and dysarthria Abnormal symmetric signals in the posterior region of the bilateral putamen Alive at 18 y

Clinical features of patients with NDUFAF5 variations reported in literature.

*

M, Male; F, Female.

Missing Citation

In the original article References 30, 31, and 32 were not cited/included in the published article. The citation has now been inserted in Table 1, under the section Discussion.

New References to be Added in the continuing order:

  • 30. Fang F, Shen Y, Shen DM, Liu ZM, Ding CH, Zhang WC, et al. [Clinical and genetic characteristics of children with Leigh syndrome]. Zhonghua er ke za zhi = Chinese J Pediatr. (2017) 55:205–9. doi: 10.3760/cma.j.issn.0578-1310.2017.03.008

  • 31. Tong W, Wang Y, Lu Y, Ye T, Song C, Xu Y, et al. Whole-exome sequencing helps the diagnosis and treatment in children with neurodevelopmental delay accompanied unexplained dyspnea. Sci Rep. (2018) 8:5214.

  • 32. Gerards M, Sluiter W, van den Bosch BJ, de Wit LE, Calis CM, Frentzen M, et al. Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome. J Med Genet. (2010) 47:507–12. doi: 10.1136/jmg.2009.067553

The authors apologize for this error and confirm that it does not change the scientific conclusions of the article in any way. The original article has been updated.

Publisher's Note

All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article, or claim that may be made by its manufacturer, is not guaranteed or endorsed by the publisher.

References

  • 1.

    Saada A Edvardson S Shaag A Chung WK Segel R Miller C et al . Combined oxphos complex i and iv defect, due to mutated complex i assembly factor c20orf7. J Inherit Metab Dis. (2012) 35:125–31. 10.1007/s10545-011-9348-y

  • 2.

    Sugiana C Pagliarini DJ McKenzie M Kirby DM Salemi R Abu-Amero KK et al . Mutation of c20orf7 disrupts complex i assembly and causes lethal neonatal mitochondrial disease. Am J Hum Genet. (2008) 83:468–78. 10.1016/j.ajhg.2008.09.009

  • 3.

    Simon MT Eftekharian SS Stover AE Osborne AF Braffman BH Chang RC et al . Novel mutations in the mitochondrial complex i assembly gene ndufaf5 reveal heterogeneous phenotypes. Mol Genet Metab. (2019) 126:53–63. 10.1016/j.ymgme.2018.11.001

Summary

Keywords

bilateral striatal necrosis, NDUFAF5, mitochondrial complex I deficiency, whole-exome sequencing, novel variation

Citation

Bi H, Guo H, Wang Q, Zhang X, Zhao Y, Li J, Zhao W, Tuo H and Zhang Y (2021) Corrigendum: A Novel Variation in the Mitochondrial Complex I Assembly Factor NDUFAF5 Causes Isolated Bilateral Striatal Necrosis in Childhood. Front. Neurol. 12:792230. doi: 10.3389/fneur.2021.792230

Received

10 October 2021

Accepted

11 October 2021

Published

09 November 2021

Approved by

Frontiers Editorial Office, Frontiers Media SA, Switzerland

Volume

12 - 2021

Updates

Copyright

*Correspondence: Hongyan Bi

This article was submitted to Neurogenetics, a section of the journal Frontiers in Neurology

Disclaimer

All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.

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