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Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets

Hypophosphatemic rickets (HR) is a syndrome of hypophosphatemia and rickets that resembles vitamin D deficiency, which is caused by malfunction of renal tubules in phosphate reabsorption. Phosphate is an essential mineral, which is important for bone and tooth structure. It is regulated by parathyro...

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Main Authors: Razali, Nurul Nadirah, Ting, Tzer Hwu, Karrupiah, Thilakavathy
Format: Article
Published: Walter de Gruyter 2015
Online Access:http://psasir.upm.edu.my/id/eprint/34904/
http://www.degruyter.com/view/j/jpem.2015.28.issue-9-10/jpem-2014-0366/jpem-2014-0366.xml
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spelling my.upm.eprints.349042015-12-23T10:46:48Z http://psasir.upm.edu.my/id/eprint/34904/ Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets Razali, Nurul Nadirah Ting, Tzer Hwu Karrupiah, Thilakavathy Hypophosphatemic rickets (HR) is a syndrome of hypophosphatemia and rickets that resembles vitamin D deficiency, which is caused by malfunction of renal tubules in phosphate reabsorption. Phosphate is an essential mineral, which is important for bone and tooth structure. It is regulated by parathyroid hormone, 1,25-dihydroxyvitamin D and fibroblast-growth-factor 23 (FGF23). X-linked hypophosphatemia (XLH), autosomal dominant HR (ADHR), and autosomal recessive HR (ARHR) are examples of hereditary forms of HR, which are mainly caused by mutations in the phosphate regulating endopeptidase homolog, X-linked (PHEX), FGF23, and, dentin matrix protein-1 (DMP1) and ecto-nucleotide pyro phosphatase/phosphodiesterase 1 (ENPP1) genes, respectively. Mutations in these genes are believed to cause elevation of circulating FGF23 protein. Increase in FGF23 disrupts phosphate homeostasis, leading to HR. This review aims to summarize phosphate homeostasis and focuses on the genes and mutations related to XLH, ADHR, and ARHR. A compilation of XLH mutation hotspots based on the PHEX gene database and mutations found in the FGF23, DMP1, and ENPP1 genes are also made available in this review. Walter de Gruyter 2015-09 Article PeerReviewed Razali, Nurul Nadirah and Ting, Tzer Hwu and Karrupiah, Thilakavathy (2015) Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets. Journal of Pediatric Endocrinology and Metabolism, 28 (9-10). pp. 1009-1017. ISSN 0334-018X; ESSN: 2191-0251 http://www.degruyter.com/view/j/jpem.2015.28.issue-9-10/jpem-2014-0366/jpem-2014-0366.xml 10.1515/jpem-2014-0366
institution Universiti Putra Malaysia
building UPM Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Putra Malaysia
content_source UPM Institutional Repository
url_provider http://psasir.upm.edu.my/
description Hypophosphatemic rickets (HR) is a syndrome of hypophosphatemia and rickets that resembles vitamin D deficiency, which is caused by malfunction of renal tubules in phosphate reabsorption. Phosphate is an essential mineral, which is important for bone and tooth structure. It is regulated by parathyroid hormone, 1,25-dihydroxyvitamin D and fibroblast-growth-factor 23 (FGF23). X-linked hypophosphatemia (XLH), autosomal dominant HR (ADHR), and autosomal recessive HR (ARHR) are examples of hereditary forms of HR, which are mainly caused by mutations in the phosphate regulating endopeptidase homolog, X-linked (PHEX), FGF23, and, dentin matrix protein-1 (DMP1) and ecto-nucleotide pyro phosphatase/phosphodiesterase 1 (ENPP1) genes, respectively. Mutations in these genes are believed to cause elevation of circulating FGF23 protein. Increase in FGF23 disrupts phosphate homeostasis, leading to HR. This review aims to summarize phosphate homeostasis and focuses on the genes and mutations related to XLH, ADHR, and ARHR. A compilation of XLH mutation hotspots based on the PHEX gene database and mutations found in the FGF23, DMP1, and ENPP1 genes are also made available in this review.
format Article
author Razali, Nurul Nadirah
Ting, Tzer Hwu
Karrupiah, Thilakavathy
spellingShingle Razali, Nurul Nadirah
Ting, Tzer Hwu
Karrupiah, Thilakavathy
Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets
author_facet Razali, Nurul Nadirah
Ting, Tzer Hwu
Karrupiah, Thilakavathy
author_sort Razali, Nurul Nadirah
title Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets
title_short Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets
title_full Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets
title_fullStr Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets
title_full_unstemmed Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets
title_sort phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets
publisher Walter de Gruyter
publishDate 2015
url http://psasir.upm.edu.my/id/eprint/34904/
http://www.degruyter.com/view/j/jpem.2015.28.issue-9-10/jpem-2014-0366/jpem-2014-0366.xml
_version_ 1643831293933256704
score 13.211869

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