Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia.
OBJECTIVE: X-linked dominant hypophosphatemia (XLH) is the most prevalent form of inherited rickets/osteomalacia in humans. The aim of this study was to identify PHEX gene mutations and describe the clinical features observed in 6 unrelated Chinese families and 3 sporadic patients with hypophosphate...
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doaj-c70bf2d1b2364494a226c7820a99d9b22020-11-25T01:20:37ZengPublic Library of Science (PLoS)PLoS ONE1932-62032014-01-0195e9783010.1371/journal.pone.0097830Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia.Hua YueJin-bo YuJin-wei HeZeng ZhangWen-zhen FuHao ZhangChun WangWei-wei HuJie-mei GuYun-qiu HuMiao LiYu-juan LiuZhen-Lin ZhangOBJECTIVE: X-linked dominant hypophosphatemia (XLH) is the most prevalent form of inherited rickets/osteomalacia in humans. The aim of this study was to identify PHEX gene mutations and describe the clinical features observed in 6 unrelated Chinese families and 3 sporadic patients with hypophosphatemic rickets/osteomalacia. METHODS: For this study, 45 individuals from 9 unrelated families of Chinese Han ethnicity (including 16 patients and 29 normal phenotype subjects), and 250 healthy donors were recruited. All 22 exons and exon-intron boundaries of the PHEX gene were amplified by polymerase chain reaction (PCR) and directly sequenced. RESULTS: The PHEX mutations were detected in 6 familial and 3 sporadic hypophosphatemic rickets/osteomalacia. Altogether, 2 novel mutations were detected: 1 missense mutation c.1183G>C in exon 11, resulting in p.Gly395Arg and 1 missense mutation c.1751A>C in exon 17, resulting in p.His584Pro. No mutations were found in the 250 healthy controls. CONCLUSIONS: Our study increases knowledge of the PHEX gene mutation types and clinical phenotypes found in Chinese patients with XLH, which is important for understanding the genetic basis of XLH. The molecular diagnosis of a PHEX genetic mutation is of great importance for confirming the clinical diagnosis of XLH, conducting genetic counseling, and facilitating prenatal intervention, especially in the case of sporadic patients.http://europepmc.org/articles/PMC4024000?pdf=render |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Hua Yue Jin-bo Yu Jin-wei He Zeng Zhang Wen-zhen Fu Hao Zhang Chun Wang Wei-wei Hu Jie-mei Gu Yun-qiu Hu Miao Li Yu-juan Liu Zhen-Lin Zhang |
spellingShingle |
Hua Yue Jin-bo Yu Jin-wei He Zeng Zhang Wen-zhen Fu Hao Zhang Chun Wang Wei-wei Hu Jie-mei Gu Yun-qiu Hu Miao Li Yu-juan Liu Zhen-Lin Zhang Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia. PLoS ONE |
author_facet |
Hua Yue Jin-bo Yu Jin-wei He Zeng Zhang Wen-zhen Fu Hao Zhang Chun Wang Wei-wei Hu Jie-mei Gu Yun-qiu Hu Miao Li Yu-juan Liu Zhen-Lin Zhang |
author_sort |
Hua Yue |
title |
Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia. |
title_short |
Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia. |
title_full |
Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia. |
title_fullStr |
Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia. |
title_full_unstemmed |
Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia. |
title_sort |
identification of two novel mutations in the phex gene in chinese patients with hypophosphatemic rickets/osteomalacia. |
publisher |
Public Library of Science (PLoS) |
series |
PLoS ONE |
issn |
1932-6203 |
publishDate |
2014-01-01 |
description |
OBJECTIVE: X-linked dominant hypophosphatemia (XLH) is the most prevalent form of inherited rickets/osteomalacia in humans. The aim of this study was to identify PHEX gene mutations and describe the clinical features observed in 6 unrelated Chinese families and 3 sporadic patients with hypophosphatemic rickets/osteomalacia. METHODS: For this study, 45 individuals from 9 unrelated families of Chinese Han ethnicity (including 16 patients and 29 normal phenotype subjects), and 250 healthy donors were recruited. All 22 exons and exon-intron boundaries of the PHEX gene were amplified by polymerase chain reaction (PCR) and directly sequenced. RESULTS: The PHEX mutations were detected in 6 familial and 3 sporadic hypophosphatemic rickets/osteomalacia. Altogether, 2 novel mutations were detected: 1 missense mutation c.1183G>C in exon 11, resulting in p.Gly395Arg and 1 missense mutation c.1751A>C in exon 17, resulting in p.His584Pro. No mutations were found in the 250 healthy controls. CONCLUSIONS: Our study increases knowledge of the PHEX gene mutation types and clinical phenotypes found in Chinese patients with XLH, which is important for understanding the genetic basis of XLH. The molecular diagnosis of a PHEX genetic mutation is of great importance for confirming the clinical diagnosis of XLH, conducting genetic counseling, and facilitating prenatal intervention, especially in the case of sporadic patients. |
url |
http://europepmc.org/articles/PMC4024000?pdf=render |
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