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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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.
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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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