A Novel Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets
Phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) is a common cause of X-linked hypophosphatemic (XLH) rickets. Diverse PHEX gene mutations have been reported; however, gene mutations in sporadic rickets are less common than in XLH rickets. Herein, we describe a...
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| Format: | Article |
| Language: | English |
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Korean Endocrine Society
2014-06-01
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| Series: | Endocrinology and Metabolism |
| Subjects: | |
| Online Access: | http://e-enm.org/Synapse/Data/PDFData/2008ENM/enm-29-195.pdf |
| _version_ | 1818357770359930880 |
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| author | Yea Eun Kang Jun Hwa Hong Jimin Kim Kyong Hye Joung Hyun Jin Kim Bon Jeong Ku Koon Soon Kim |
| author_facet | Yea Eun Kang Jun Hwa Hong Jimin Kim Kyong Hye Joung Hyun Jin Kim Bon Jeong Ku Koon Soon Kim |
| author_sort | Yea Eun Kang |
| collection | DOAJ |
| description | Phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) is a common cause of X-linked hypophosphatemic (XLH) rickets. Diverse PHEX gene mutations have been reported; however, gene mutations in sporadic rickets are less common than in XLH rickets. Herein, we describe a 50-year-old female patient with sporadic hypophosphatemic rickets harboring a novel splicing-site mutation in the PHEX gene (c.663+1G>A) at the exon 5-intron 5 boundary. The patient had recently suffered from right thigh pain and an aggravated waddling gait. She also presented with very short stature, generalized bone pain, and muscle weakness. Despite low serum phosphate levels, her phosphate reabsorption rate was lower than normal. Additionally, her 1,25-dihydroxyvitamin D3 concentration was lower than normal, although FGF23 level was normal. After treatment with alfacalcidol and elemental phosphate, her rachitic symptoms subsided, and callus formation was observed in the fracture site on the right femur. |
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| format | Article |
| id | doaj.art-c0c32554043c41c7b47cc1a85068108d |
| institution | Directory Open Access Journal |
| issn | 2093-596X 2093-5978 |
| language | English |
| last_indexed | 2024-12-13T20:18:23Z |
| publishDate | 2014-06-01 |
| publisher | Korean Endocrine Society |
| record_format | Article |
| series | Endocrinology and Metabolism |
| spelling | doaj.art-c0c32554043c41c7b47cc1a85068108d2022-12-21T23:32:46ZengKorean Endocrine SocietyEndocrinology and Metabolism2093-596X2093-59782014-06-0129219520110.3803/EnM.2014.29.2.19521706A Novel Gene Mutation in a Patient with Sporadic Hypophosphatemic RicketsYea Eun KangJun Hwa HongJimin KimKyong Hye JoungHyun Jin KimBon Jeong KuKoon Soon KimPhosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) is a common cause of X-linked hypophosphatemic (XLH) rickets. Diverse PHEX gene mutations have been reported; however, gene mutations in sporadic rickets are less common than in XLH rickets. Herein, we describe a 50-year-old female patient with sporadic hypophosphatemic rickets harboring a novel splicing-site mutation in the PHEX gene (c.663+1G>A) at the exon 5-intron 5 boundary. The patient had recently suffered from right thigh pain and an aggravated waddling gait. She also presented with very short stature, generalized bone pain, and muscle weakness. Despite low serum phosphate levels, her phosphate reabsorption rate was lower than normal. Additionally, her 1,25-dihydroxyvitamin D3 concentration was lower than normal, although FGF23 level was normal. After treatment with alfacalcidol and elemental phosphate, her rachitic symptoms subsided, and callus formation was observed in the fracture site on the right femur.http://e-enm.org/Synapse/Data/PDFData/2008ENM/enm-29-195.pdfPhosphate regulating gene with homologies to endopeptidases on the X-chromosomeRickets, hypophosphatemicFibroblast growth factor 23 |
| spellingShingle | Yea Eun Kang Jun Hwa Hong Jimin Kim Kyong Hye Joung Hyun Jin Kim Bon Jeong Ku Koon Soon Kim A Novel Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets Endocrinology and Metabolism Phosphate regulating gene with homologies to endopeptidases on the X-chromosome Rickets, hypophosphatemic Fibroblast growth factor 23 |
| title | A Novel Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets |
| title_full | A Novel Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets |
| title_fullStr | A Novel Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets |
| title_full_unstemmed | A Novel Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets |
| title_short | A Novel Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets |
| title_sort | novel gene mutation in a patient with sporadic hypophosphatemic rickets |
| topic | Phosphate regulating gene with homologies to endopeptidases on the X-chromosome Rickets, hypophosphatemic Fibroblast growth factor 23 |
| url | http://e-enm.org/Synapse/Data/PDFData/2008ENM/enm-29-195.pdf |
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