Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia.
Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia.
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中国低磷性佝偻病/骨软化症患者 PHEX 基因的两个新突变的鉴定
DOI：
10.1371/journal.pone.0097830
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发表时间：
2014
期刊：
影响因子：
3.7
通讯作者：
Zhang ZL
中科院分区：
文献类型：
--
作者：
Yue H;Yu JB;He JW;Zhang Z;Fu WZ;Zhang H;Wang C;Hu WW;Gu JM;Hu YQ;Li M;Liu YJ;Zhang ZL
目的x连锁显性低磷血症（XLH）是人类遗传性佝偻病/骨软化症最常见的形式。本研究的目的是鉴定6个无血缘关系的中国家庭和3例散发性低磷血症佝偻病/骨软化症患者的PHEX基因突变并描述其临床特征。方法本研究招募来自9个无血缘关系汉族家庭的45名个体（包括16名患者和29名正常表型受试者）和250名健康供体。采用聚合酶链反应（PCR）扩增PHEX基因的22个外显子和外显子-内含子边界，并直接测序。结果6例家族性和3例散发性低磷血症性佝偻病/骨软化症检测到PHEX突变。共检测到2个新突变：第11外显子C . 1183g >C错义突变导致p.Gly395Arg；第17外显子C . 1751a >C错义突变导致p.His584Pro。在250名健康对照者中未发现突变。结论本研究增加了对中国XLH患者PHEX基因突变类型和临床表型的认识，对了解XLH的遗传基础具有重要意义。对PHEX基因突变的分子诊断，对于确认XLH的临床诊断、进行遗传咨询、进行产前干预具有重要意义，特别是在散发患者的情况下。
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.
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三个中国 X 连锁显性低磷血症性佝偻病家系 PHEX 基因的 3 个新突变
影响因子：
4.2
作者：
Xia, Weibo;Meng, Xunwu;Zhou, Xueying
通讯作者：
Zhou, Xueying
影响因子：
4.2
作者：
Jap, Tjin-Shing;Chiu, Chih-Yang;Niu, Dau-Ming;Levine, Michael A.
通讯作者：
Levine, Michael A.
影响因子：
4.4
作者：
Du, L;Desbarats, M;Ecarot, B
通讯作者：
Ecarot, B
影响因子：
4.2
作者：
Clausmeyer, S.;Hesse, V.;Raue, F.
通讯作者：
Raue, F.
影响因子：
--
作者：
Lo, Fu-Sung;Kuo, Min-Tzu;Van, Yang-Hau
通讯作者：
Van, Yang-Hau