Three Novel Mutations of the PHEX Gene in Three Chinese Families with X-linked Dominant Hypophosphatemic Rickets.

Three Novel Mutations of the PHEX Gene in Three Chinese Families with X-linked Dominant Hypophosphatemic Rickets. Research Abstract Details 

Research Abstract Table of Contents

Jump to the:

Three Novel Mutations of the PHEX Gene in Three Chinese Families with X-linked Dominant Hypophosphatemic Rickets. Abstract Text:

Weibo Xia,Xunwu Meng,Yan Jiang,Mei Li,Xiaoping Xing,Li Pang,Ou Wang,Yu Pei,Li-Yun Yu,Yue Sun,Yingying Hu,Xueying Zhou,

X-linked dominant hypophosphatemia (XLH, OMIM307800), the most prevalent form of inherited rickets in humans, is a dominant disorder of phosphate homeostasis characterized by growth retardation, rachitic and osteomalacic bone disease, hypophosphatemia, and renal phosphate wasting. The gene responsible for XLH was identified by positional cloning and designated PHEX (formerly PEX) to depict a phosphate-regulating gene homologous with endopeptidases on the X chromosome. Recently, extensive mutation analysis of the PHEX gene has revealed a wide variety of gene defects in XLH. The ethnic distribution of the mutations is very widespread but only a few mutations in Chinese have been reported. To analyze the molecular basis in three unrelated Chinese families with XLH, we determined the nucleotide sequence of the PHEX gene and fibroblast growth factor 23 (FGF23) gene of affected members. The serum FGF23 concentrations of these patients with XLH were also measured. Three different novel mutations were observed in these three families: one deletion mutation c.264delG causing p.W88 X; one missense mutation c.1673C>G causing p.P558A; one nonsense mutation c.1809G>A causing p.W603 X. Serum concentration of FGF23 in XLH patients of these three families was significantly higher than normal. The results suggest that PHEX gene mutations were responsible for XLH in these patients and these mutations may contribute to a higher serum FGF23 level.

Three Novel Mutations of the PHEX Gene in Three Chinese Families with X-linked Dominant Hypophosphatemic Rickets. Publishing Authors By Initials

W Xia,X Meng,Y Jiang,M Li,X Xing,L Pang,O Wang,Y Pei,LY Yu,Y Sun,Y Hu,X Zhou,

For similar abstracts research abstracts see: abstracts research

PUBMED ID PMID:

MEDLINE DATE:

Three Novel Mutations of the PHEX Gene in Three Chinese Families with X-linked Dominant Hypophosphatemic Rickets. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Calcified tissue international

VOLUME: 81

Page Numbers: 415-20

Journal Abbreviation: Calcif. Tissue Int.

ISSN: 0171-967X

DAY: 29

MONTH: 11

YEAR: 2007

Three Novel Mutations of the PHEX Gene in Three Chinese Families with X-linked Dominant Hypophosphatemic Rickets. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 7905481

Three Novel Mutations of the PHEX Gene in Three Chinese Families with X-linked Dominant Hypophosphatemic Rickets. Keywords Mesh Terms:

KEYWORDS:

MESH TERMS:

Chemical & Substance for Abstract: Three Novel Mutations of the PHEX Gene in Three Chinese Families with X-linked Dominant Hypophosphatemic Rickets. Information

Substance Name:

Registry Number:

Grant and Affiliation Information for Three Novel Mutations of the PHEX Gene in Three Chinese Families with X-linked Dominant Hypophosphatemic Rickets.

AFFILIATION: Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Wangfujing, Dongcheng District, Beijing, 100730, China, xiaweibo@medmail.com.cn.

Country: United States

AGENCY:

GRANT:

ACRONYM:

MEDLINETA: Calcif Tissue Int

REFSOURCE:

DATABASENAME:

ACCESSION NUMBER:

Number Hits: 0

Three Novel Mutations of the PHEX Gene in Three Chinese Families with X-linked Dominant Hypophosphatemic Rickets Related Publications

• Inhibitors of Na+/H+ and Na+/Ca2+ exchange depress intracellular calcium elevation induced by ischemia/reperfusion in rat cardiac myocytes.
• Inhibitory effect of recombinant FN polypeptide CH50 on the metastasis and tumor growth.
• Quantification of bcr/abl mRNA expression level in leukemia cells by FQ-RT-PCR.
• [An experimental study on the survival of the anterior abdominal skin flap after VEGF cDNA administration]
• [An inquiry into blood loss in laparoscopic liver resections]
• [Association studies of dopamine D4 receptor gene and dopamine transporter gene polymorphisms in Han Chinese patients with attention deficit hyperactivity disorder]
• [Beneficial effect of thyrotropin-releasing hormone in combination with HSD on hemorrhagic shock with pulmonary edema at high altitude in the rat]
• [Changes in platelet membrane glycoprotein levels in patients with cardiopulmonary resuscitation]
• [Clinical analysis of 13 infected total knee replacements]
• [Detection of epileptic waves in EEG based on wavelet transform]
• [Effects of Alexandrium tamarense and Prorocentrum donghaiense on rotifer Brachionus plicatilis population]
• [Effects of the novel gene, LAPTM4B, highly expression in hepatocellular carcinoma on cell proliferation and tumorigenesis of NIH3T3 cells]
• [Experimental study of K562 cell apoptosis induced by harringtonine]
• [Expression of otsA gene in tobacco and improvement stress tolerance]
• [Hemodynamic and pathologic changes in open abdominal wound after seawater immersion in dog]
• [High efficient expression of recombinant human platelet factor IV in pichia pastoris]
• [Identification of radix Rubiae and the root of Humulus scardens (Lour.) Merr.]
• [Incompatibility among indigenous plasmids of Sinorhizobium fredii strains and its application for plasmid curing]
• [Nutrition support of severe illness patients of general surgery during perioperation period]
• [Preliminary analysis of the characteristics of red tide areas in Changjiang River estuary and its adjacent sea]
• [Relationship between tissue inhibitors of metalloproteinase and metastasis and prognosis in breast cancer]
• [Repairing large alar defects by using a retro-grade auricular flap]
• [Research advance in effects of harmful algal bloom species on zooplankton]
• [Scoring protocol for quantitative diagnosis of gastrointestinal dysfunction and failure in severe cases]
• [Study on new techniques for genetic diagnosis of deletional alpha-thalassemia]
• [The influence of intrahepatic transplantation of hepatocytes and insular cells on liver cirrhosis]
• [The relationship of facet orientation to intervertebral disc protrusion and lateral recess stenosis in lower lumbar spine]
• [Transplantation of bone marrow cells upregulated vascular endothelial growth factor and its receptor and improved ischemic myocardial function]
• [Ultrasound surveillance of cervical lymph node metastasis in thoracic esophageal carcinoma]
• [Using scar tissue flap to repair secondary nasal deformities of unilateral cleft lip]