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ALG3-CDG: lethal phenotype and novel variants in Chinese siblings

Journal of Human Genetics volume 65, pages 1129–1134 (2020)Cite this article

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Abstract

Congenital disorders of glycosylation (CDG) are a group of genetic, mostly multisystem disorders, which often involve the central nervous system. ALG3-CDG is one the some 130 known CDG. Here we report two siblings with a severe phenotype and intrauterine death. Whole-exome sequencing revealed two novel variants in ALG3: NM_005787.6:c.512G>T (p.Arg171Leu) inherited from the mother and NM_005787.6:c.511C>T (p.Arg171Trp) inherited from the father.

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Acknowledgements

We are grateful to the patients and their family for providing samples and clinical histories.

Funding

This research was supported in part by the 345 Talent Project to YL and National Natural Science Foundation of China (81701462 to YL) and National Key R&D Program of China (2018YFC1002900 to YL).

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang, China

    Yue Bian, Chong Qiao, Huan Li, ZhiTao Zhang, ShaoWei Yin, CaiXia Liu & Yuan Lyu

  2. Key Laboratory of Maternal-Fetal Medicine of Liaoning Province, Key Laboratory of Obstetrics and Gynecology of Higher Education of Liaoning Province, Research Center of China Medical University Birth Cohort, Shenyang, China

    Yue Bian, Chong Qiao, CaiXia Liu & Yuan Lyu

  3. Department of Radiology, The People’s Hospital of China Medical University, Shenyang, China

    ShuGuang Zheng

  4. Dian Diagnostics Group Co., LTD., Hangzhou, China

    Hao Qiu

  5. Department of Pediatrics, The First Affiliated Hospital of China Medical University, Shenyang, China

    HongKun Jiang

  6. Jinxin Research Institute of Reproductive Medicine and Genetics, Jinjiang Maternal and Children’s Health Care Hospital, Chengdu, China

    Jesse Li-Ling

Authors
  1. Yue Bian
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  2. Chong Qiao
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  5. Huan Li
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  8. HongKun Jiang
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  9. Jesse Li-Ling
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  10. CaiXia Liu
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  11. Yuan Lyu
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Contributions

YB and SGZ performed the research and analyzed and interpreted the data. YB and HQ drafted the manuscript. HL, ZTZ, and YSW helped in sample collection. CXL performed phenotyping of patients. YL and CQ helped in analysis and interpretation of ES data. HKJ provided technical support. YB, HL, ZTZ, YSW, YL, JLL, and CQ were involved in scientific discussion and offered suggestions. CQ and YL conceived and designed the study, revised the manuscript, and provided final approval of the manuscript.

Corresponding author

Correspondence to Yuan Lyu.

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Bian, Y., Qiao, C., Zheng, S. et al. ALG3-CDG: lethal phenotype and novel variants in Chinese siblings. J Hum Genet 65, 1129–1134 (2020). https://doi.org/10.1038/s10038-020-0798-7

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  • DOI: https://doi.org/10.1038/s10038-020-0798-7

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