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Title: Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets

Abstract

Highlights: Black-Right-Pointing-Pointer In our study, all of the patients were of Han Chinese ethnicity, which were rarely reported. Black-Right-Pointing-Pointer We identified three novel PHEX gene mutations in four unrelated families with XLH. Black-Right-Pointing-Pointer We found that the relationship between the phenotype and genotype of the PHEX gene was not invariant. Black-Right-Pointing-Pointer We found that two PHEX gene sites, p.534 and p.731, were conserved. -- Abstract: Background: X-linked hypophosphatemia (XLH), the most common form of inherited rickets, is a dominant disorder that is characterized by renal phosphate wasting with hypophosphatemia, abnormal bone mineralization, short stature, and rachitic manifestations. The related gene with inactivating mutations associated with XLH has been identified as PHEX, which is a phosphate-regulating gene with homologies to endopeptidases on the X chromosome. In this study, a variety of PHEX mutations were identified in four Chinese families with XLH. Methods: We investigated four unrelated Chinese families who exhibited typical features of XLH by using PCR to analyze mutations that were then sequenced. The laboratory and radiological investigations were conducted simultaneously. Results: Three novel mutations were found in these four families: one frameshift mutation, c.2033dupT in exon 20, resulting in p.T679H; one nonsense mutation, c.1294A > T in exon 11,more » resulting in p.K432X; and one missense mutation, c.2192T > C in exon 22, resulting in p.F731S. Conclusions: We found that the PHEX gene mutations were responsible for XLH in these Chinese families. Our findings are useful for understanding the genetic basis of Chinese patients with XLH.« less

Authors:
 [1];  [1];  [2];  [2];  [1];  [2];  [3];  [1];  [2];  [3];  [3]
  1. Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233 (China)
  2. (China)
  3. Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233 (China)
Publication Date:
OSTI Identifier:
22207944
Resource Type:
Journal Article
Resource Relation:
Journal Name: Biochemical and Biophysical Research Communications; Journal Volume: 423; Journal Issue: 4; Other Information: Copyright (c) 2012 Elsevier Science B.V., Amsterdam, The Netherlands, All rights reserved.; Country of input: International Atomic Energy Agency (IAEA)
Country of Publication:
United States
Language:
English
Subject:
60 APPLIED LIFE SCIENCES; BASES; FIBROBLASTS; GENE MUTATIONS; GENES; GENOTYPE; GROWTH FACTORS; KIDNEYS; MINERALIZATION; NEOPLASMS; PATIENTS; PHOSPHATES; POLYMERASE CHAIN REACTION; RICKETS; SKELETON; TITANIUM OXIDES; X CHROMOSOME

Citation Formats

Kang, Qing-lin, Xu, Jia, Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, Medical College of Soochow University, Suzhou, Jiangsu province 215000, Zhang, Zeng, Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, He, Jin-wei, Lu, Lian-song, Medical College of Soochow University, Suzhou, Jiangsu province 215000, Fu, Wen-zhen, and Zhang, Zhen-lin, E-mail: zzl2002@medmail.com.cn. Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets. United States: N. p., 2012. Web. doi:10.1016/J.BBRC.2012.06.042.
Kang, Qing-lin, Xu, Jia, Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, Medical College of Soochow University, Suzhou, Jiangsu province 215000, Zhang, Zeng, Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, He, Jin-wei, Lu, Lian-song, Medical College of Soochow University, Suzhou, Jiangsu province 215000, Fu, Wen-zhen, & Zhang, Zhen-lin, E-mail: zzl2002@medmail.com.cn. Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets. United States. doi:10.1016/J.BBRC.2012.06.042.
Kang, Qing-lin, Xu, Jia, Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, Medical College of Soochow University, Suzhou, Jiangsu province 215000, Zhang, Zeng, Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, He, Jin-wei, Lu, Lian-song, Medical College of Soochow University, Suzhou, Jiangsu province 215000, Fu, Wen-zhen, and Zhang, Zhen-lin, E-mail: zzl2002@medmail.com.cn. Fri . "Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets". United States. doi:10.1016/J.BBRC.2012.06.042.
@article{osti_22207944,
title = {Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets},
author = {Kang, Qing-lin and Xu, Jia and Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233 and Medical College of Soochow University, Suzhou, Jiangsu province 215000 and Zhang, Zeng and Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233 and He, Jin-wei and Lu, Lian-song and Medical College of Soochow University, Suzhou, Jiangsu province 215000 and Fu, Wen-zhen and Zhang, Zhen-lin, E-mail: zzl2002@medmail.com.cn},
abstractNote = {Highlights: Black-Right-Pointing-Pointer In our study, all of the patients were of Han Chinese ethnicity, which were rarely reported. Black-Right-Pointing-Pointer We identified three novel PHEX gene mutations in four unrelated families with XLH. Black-Right-Pointing-Pointer We found that the relationship between the phenotype and genotype of the PHEX gene was not invariant. Black-Right-Pointing-Pointer We found that two PHEX gene sites, p.534 and p.731, were conserved. -- Abstract: Background: X-linked hypophosphatemia (XLH), the most common form of inherited rickets, is a dominant disorder that is characterized by renal phosphate wasting with hypophosphatemia, abnormal bone mineralization, short stature, and rachitic manifestations. The related gene with inactivating mutations associated with XLH has been identified as PHEX, which is a phosphate-regulating gene with homologies to endopeptidases on the X chromosome. In this study, a variety of PHEX mutations were identified in four Chinese families with XLH. Methods: We investigated four unrelated Chinese families who exhibited typical features of XLH by using PCR to analyze mutations that were then sequenced. The laboratory and radiological investigations were conducted simultaneously. Results: Three novel mutations were found in these four families: one frameshift mutation, c.2033dupT in exon 20, resulting in p.T679H; one nonsense mutation, c.1294A > T in exon 11, resulting in p.K432X; and one missense mutation, c.2192T > C in exon 22, resulting in p.F731S. Conclusions: We found that the PHEX gene mutations were responsible for XLH in these Chinese families. Our findings are useful for understanding the genetic basis of Chinese patients with XLH.},
doi = {10.1016/J.BBRC.2012.06.042},
journal = {Biochemical and Biophysical Research Communications},
number = 4,
volume = 423,
place = {United States},
year = {Fri Jul 13 00:00:00 EDT 2012},
month = {Fri Jul 13 00:00:00 EDT 2012}
}