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Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene

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Abstract

Aim

Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare endocrine disorder caused by autosomal recessive variants in GALNT3, FGF23, and KL leading to progressive calcification of soft tissues and subsequent clinical effects. The aim of this was to study the cause of HFTC in an Iranian family.

Patients and methods

Four generations of a family with HFTC were studied for understanding the genetic pattern of the disease. Whole exome sequencing was applied on genomic DNA of the proband. Based on its result, genetically altered sequences were checked in his family through sanger sequencing. Then bioinformatics approaches as well as co-segregation analysis were applied to validate the genetic alteration.

Results

A novel homozygous variant in exon four of GALNT3, namely p.R261Q was found. The parents and sister were carriers.

Conclusion

To our knowledge, it is the first-reported Iranian family with GALNT3-CDG novel variant.

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Funding

This work was funded by Iran University of Medical Science and Genetic Foundation of Tehran under Grant no. 97-3-24-12976.

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Authors and Affiliations

  1. Genetic Foundation of Tehran, Solaleh Diagnostic Laboratory, Tehran, Iran

    F. Mahjoubi & S. Samanian

  2. Department of Clinical Genetics, Institute of Medical Biotechnology, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran

    F. Mahjoubi

  3. Endocrine Research Center, Institute of Endocrinology and Metabolism, Iran University of Medical Sciences, No 10, Firoozeh St, Vali-asr Sq, Tehran, Iran

    M. Ghadir, I. Heydari & M. Honardoost

Authors
  1. F. Mahjoubi
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  2. M. Ghadir
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  3. S. Samanian
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  4. I. Heydari
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  5. M. Honardoost
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Contributions

M.H. and F.M. conceived and designed the experiments. I.H. and M.G carried out clinical diagnosis and treatment and interpreted clinical results. F.M., S.S., and M.H. carried out and interpreted the molecular and genetic experiments. M.H and S.S and M.G. wrote the manuscript and all authors approved the final version of it.

Corresponding author

Correspondence to M. Honardoost.

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Conflict of interest

The authors declare neither conflict competing conflicts, nor industry relationship related to this study.

Ethical approval

The research was carried out based on the Declaration of Helsinki principles. All the participants were provided written informed consent to participate and to publish data. The study was approved by the Ethics Committee of Iran University of Medical Sciences, Tehran, Iran (IR.IUMS.REC.1397.620).

Informed consent

Written informed consent was obtained for participants. The ethical committee of Ian University of Medical Science, Tehran, Iran, approved the study.

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Mahjoubi, F., Ghadir, M., Samanian, S. et al. Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene. J Endocrinol Invest 43, 1125–1130 (2020). https://doi.org/10.1007/s40618-020-01203-x

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  • DOI: https://doi.org/10.1007/s40618-020-01203-x

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