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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CITATION STYLE
Bian, Y., Qiao, C., Zheng, S. G., Qiu, H., Li, H., Zhang, Z. T., … Lyu, Y. (2020). ALG3-CDG: lethal phenotype and novel variants in Chinese siblings. Journal of Human Genetics, 65(12), 1129–1134. https://doi.org/10.1038/s10038-020-0798-7
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