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The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis

Journal of Human Genetics volume 67, pages 103–106 (2022)Cite this article

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Abstract

Congenital disorders of glycosylation (CDGs) are inherited metabolic diseases affecting protein and lipid glycosylation. DDOST-CDG is a rare, newly identified type of CDGs, with only one case reported so far. In this study, we report a Chinese patient with a homozygous pathogenic variant in DDOST (c.1187G>A) and who presented with feeding difficulty, lactose intolerance, facial dysmorphism, failure to thrive, strabismus, high myopia, astigmatism, hypotonia, developmental delay and situs inversus totalis. Serum transferrin isoelectrofocusing demonstrated defective glycosylation in our patient. This finding further identifies DDOST as a genetic cause of CDGs and expands the clinical phenotype of DDOST-CDG.

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Acknowledgements

We thank the patient and his family for their collaboration.

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Authors and Affiliations

  1. Neurology Department, Xiangya Hospital, Central South University, Changsha, China

    Shanyu Pi, Wenbiao Xiao, Bo Xiao & Hongyu Long

  2. Neurology Department, Hunan Children’s Hospital, Changsha, China

    Jiaoe Gong

  3. Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, China

    Xiao Mao

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  1. Shanyu Pi
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  2. Jiaoe Gong
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Contributions

SP contributed to clinical data collection and writing of the manuscript. XM and HL guided the completion of this manuscript. JG and WX participated in the serum transferrin isoelectrofocusing. BX performed the DNA analysis. All authors approved the submitted version for publication.

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Correspondence to Xiao Mao or Hongyu Long.

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Pi, S., Gong, J., Xiao, W. et al. The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis. J Hum Genet 67, 103–106 (2022). https://doi.org/10.1038/s10038-021-00974-2

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  • DOI: https://doi.org/10.1038/s10038-021-00974-2

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