Hyperostosis-Hyperphosphatemia Syndrome (Hhs): Report of Two Cases With a Recurrent Mutation and Review of the Literature

Hyperostosis-Hyperphosphatemia Syndrome (Hhs): Report of Two Cases With a Recurrent Mutation and Review of the Literature Publisher Pubmed

Ghafourifard S¹ ; Abbasi F² ; Azizi F¹ ; Javaheri M¹ ; Mehdizadeh M³ ; Setoodeh A⁴

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1. Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran
2. Growth and Development Research Center, Children Medical Hospital, Tehran University of Medical Sciences, Tehran, Iran
3. Children Medical Hospital, Tehran University of Medical Sciences, Tehran, Iran
4. Endocrine and Metabolic Division, Children Medical Hospital, Tehran University of Medical Sciences, Tehran, Iran

Source: Journal of Pediatric Endocrinology and Metabolism Published:2015

Abstract

Hyperostosis-hyperphosphatemia syndrome (HHS) is a rare autosomal recessive metabolic disorder caused by mutations in the GALNT3 and FGF23 genes. The main features of this disorder include painful swelling of long bones, increased renal reabsorption of phosphate but normal renal function and vitamin D and parathormone levels. Previously, we reported a novel missense mutation in the FGF23 gene in a patient suffering from HHS. In the present report, we demonstrated the same mutation (c.471C>A) in two other cases of HHS with similar clinical manifestations. As this nucleotide change has not been reported previously, it can be a population specific mutation in Iran that can facilitate carrier testing and prenatal diagnosis of HHS.

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Style	Citing Format
MLA	Ghafourifard S, et al.. "Hyperostosis-Hyperphosphatemia Syndrome (Hhs): Report of Two Cases With a Recurrent Mutation and Review of the Literature." Journal of Pediatric Endocrinology and Metabolism, vol. 28, no. 1-2, 2015, pp. 231-235.
APA	Ghafourifard S, Abbasi F, Azizi F, Javaheri M, Mehdizadeh M, Setoodeh A (2015). Hyperostosis-Hyperphosphatemia Syndrome (Hhs): Report of Two Cases With a Recurrent Mutation and Review of the Literature. Journal of Pediatric Endocrinology and Metabolism, 28(1-2), 231-235.
Chicago	Ghafourifard S, Abbasi F, Azizi F, Javaheri M, Mehdizadeh M, Setoodeh A. "Hyperostosis-Hyperphosphatemia Syndrome (Hhs): Report of Two Cases With a Recurrent Mutation and Review of the Literature." Journal of Pediatric Endocrinology and Metabolism 28, no. 1-2 (2015): 231-235.
Harvard	Ghafourifard S et al. (2015) 'Hyperostosis-Hyperphosphatemia Syndrome (Hhs): Report of Two Cases With a Recurrent Mutation and Review of the Literature', Journal of Pediatric Endocrinology and Metabolism, 28(1-2), pp. 231-235.
Vancouver	Ghafourifard S, Abbasi F, Azizi F, Javaheri M, Mehdizadeh M, Setoodeh A. Hyperostosis-Hyperphosphatemia Syndrome (Hhs): Report of Two Cases With a Recurrent Mutation and Review of the Literature. Journal of Pediatric Endocrinology and Metabolism. 2015;28(1-2):231-235.
BibTex	@article{ author = {Ghafourifard S and Abbasi F and Azizi F and Javaheri M and Mehdizadeh M and Setoodeh A}, title = {Hyperostosis-Hyperphosphatemia Syndrome (Hhs): Report of Two Cases With a Recurrent Mutation and Review of the Literature}, journal = {Journal of Pediatric Endocrinology and Metabolism}, volume = {28}, number = {1-2}, pages = {231-235}, year = {2015} }
RIS	TY - JOUR AU - Ghafourifard S AU - Abbasi F AU - Azizi F AU - Javaheri M AU - Mehdizadeh M AU - Setoodeh A TI - Hyperostosis-Hyperphosphatemia Syndrome (Hhs): Report of Two Cases With a Recurrent Mutation and Review of the Literature JO - Journal of Pediatric Endocrinology and Metabolism VL - 28 IS - 1-2 SP - 231 EP - 235 PY - 2015 ER -

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