Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share By
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
Authors

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.
Other Related Docs
11. Fibroblast Growth Factor 23 in Postrenal Transplant: An Often Forgotten Hormone, Experimental and Clinical Transplantation (2016)
12. Tumoral Calcinosis: Case Report, Tehran University Medical Journal (2015)
13. Early Postkidney Transplantation Hypophosphatemia, Journal of Research in Medical Sciences (2020)
14. Brachydactyly Mental Retardation Syndrome With Growth Hormone Deficiency, Endocrinology# Diabetes and Metabolism Case Reports (2018)
20. Clinical, Genetic, and Structural Basis of Apparent Mineralocorticoid Excess Due to 11Î’-Hydroxysteroid Dehydrogenase Type 2 Deficiency, Proceedings of the National Academy of Sciences of the United States of America (2017)