Hyperphosphatemic Familial Tumoral Calcinosis Caused by a Novel Variant in the Galnt3 Gene

Hyperphosphatemic Familial Tumoral Calcinosis Caused by a Novel Variant in the Galnt3 Gene Publisher Pubmed

Mahjoubi F^{1, 2} ; Ghadir M³ ; Samanian S¹ ; Heydari I³ ; Honardoost M³

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1. Genetic Foundation of Tehran, Solaleh Diagnostic Laboratory, Tehran, Iran
2. Department of Clinical Genetics, Institute of Medical Biotechnology, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran
3. Endocrine Research Center, Institute of Endocrinology and Metabolism, Iran University of Medical Sciences, No 10, Firoozeh St, Vali-asr Sq, Tehran, Iran

Source: Journal of Endocrinological Investigation Published:2020

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. © 2020, Italian Society of Endocrinology (SIE).

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Style	Citing Format
MLA	Mahjoubi F, et al.. "Hyperphosphatemic Familial Tumoral Calcinosis Caused by a Novel Variant in the Galnt3 Gene." Journal of Endocrinological Investigation, vol. 43, no. 8, 2020, pp. 1125-1130.
APA	Mahjoubi F, Ghadir M, Samanian S, Heydari I, Honardoost M (2020). Hyperphosphatemic Familial Tumoral Calcinosis Caused by a Novel Variant in the Galnt3 Gene. Journal of Endocrinological Investigation, 43(8), 1125-1130.
Chicago	Mahjoubi F, Ghadir M, Samanian S, Heydari I, Honardoost M. "Hyperphosphatemic Familial Tumoral Calcinosis Caused by a Novel Variant in the Galnt3 Gene." Journal of Endocrinological Investigation 43, no. 8 (2020): 1125-1130.
Harvard	Mahjoubi F et al. (2020) 'Hyperphosphatemic Familial Tumoral Calcinosis Caused by a Novel Variant in the Galnt3 Gene', Journal of Endocrinological Investigation, 43(8), pp. 1125-1130.
Vancouver	Mahjoubi F, Ghadir M, Samanian S, Heydari I, Honardoost M. Hyperphosphatemic Familial Tumoral Calcinosis Caused by a Novel Variant in the Galnt3 Gene. Journal of Endocrinological Investigation. 2020;43(8):1125-1130.
BibTex	@article{ author = {Mahjoubi F and Ghadir M and Samanian S and Heydari I and Honardoost M}, title = {Hyperphosphatemic Familial Tumoral Calcinosis Caused by a Novel Variant in the Galnt3 Gene}, journal = {Journal of Endocrinological Investigation}, volume = {43}, number = {8}, pages = {1125-1130}, year = {2020} }
RIS	TY - JOUR AU - Mahjoubi F AU - Ghadir M AU - Samanian S AU - Heydari I AU - Honardoost M TI - Hyperphosphatemic Familial Tumoral Calcinosis Caused by a Novel Variant in the Galnt3 Gene JO - Journal of Endocrinological Investigation VL - 43 IS - 8 SP - 1125 EP - 1130 PY - 2020 ER -

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