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Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene

Journal of Molecular Neuroscience volume 71, pages 245–251 (2021)Cite this article

Abstract

Metachromatic leukodystrophy(MLD) is an autosomal recessive hereditary neurodegenerative lysosomal storage disorder caused by the mutations in arylsulfatase A gene (ARSA), which results in the deficiency of ARSA enzyme. The common clinical characteristics of MLD are abnormal gait, and then gradually appears ataxia, spastic quadriplegia, optic atrophy, cortical blindness, and dementia. We describe two patients in China who were diagnosed with MLD and find that the four ARSA gene mutations (c.1115G>A, c.302G>T, c.893 G> T, and c.302G>T) are associated with MLD, in which c.893 G>T and c.302G>T are novel mutations by gene sequence and clinical manifestations, to further understand the relationship between MLD and ARSA gene.

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Acknowledgments

We thank the patients and their parents for their cooperation.

Funding

This study was supported by the National Nature Science Foundation of China (grant number 81871246). Kangso Medical Inspection (Beijing, China) supports our study.

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Author notes

  1. Sifei Wu and Mei Hou contributed equally to this work.

Authors and Affiliations

  1. Pediatric Department, The Affiliated Hospital of Qingdao University, No. 16 Jiangsu Road, Qingdao, 266000, Shandong, People’s Republic of China

    Sifei Wu, Jie Song, Ya Guo, Peipei Liu, Yedan Liu, Liping Yi, Xiaoyu Pan & Zongbo Chen

  2. Pediatric Department, Qingdao Women & Children Hospital, No. 6 Tongfu Road, Qingdao, 266000, Shandong, People’s Republic of China

    Mei Hou

  3. Ophthalmology Department, Qingdao Municipal Hospital, No. 1 Jiaozhou Road, Qingdao, 266000, Shandong, People’s Republic of China

    Yu Zhang

  4. Kangso Medical Inspection Co., Ltd., No.65 Haidian District, Xingshikou Road Yiyuan Cultural Creative Industry Base C District No. 10, Floor 2, 201-203, Beijing, 100195, People’s Republic of China

    Wei We

Authors
  1. Sifei Wu
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  2. Mei Hou
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  3. Yu Zhang
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  4. Jie Song
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  9. Xiaoyu Pan
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  10. Wei We
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  11. Zongbo Chen
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Corresponding author

Correspondence to Zongbo Chen.

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The study protocol was approved by the Ethical Committee of the Affiliated Hospital of Qingdao University (Qingdao, China). Informed consent was obtained from all individual participants included in this study.

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The authors declare that they have no conflict of interest.

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Wu, S., Hou, M., Zhang, Y. et al. Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene. J Mol Neurosci 71, 245–251 (2021). https://doi.org/10.1007/s12031-020-01643-3

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  • DOI: https://doi.org/10.1007/s12031-020-01643-3

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