Tags

Type your tag names separated by a space and hit enter

Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets.
Biochem Biophys Res Commun. 2012 Jul 13; 423(4):793-8.BB

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.

Authors+Show Affiliations

Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, PR China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22713460

Citation

Kang, Qing-lin, et al. "Three Novel PHEX Gene Mutations in Four Chinese Families With X-linked Dominant Hypophosphatemic Rickets." Biochemical and Biophysical Research Communications, vol. 423, no. 4, 2012, pp. 793-8.
Kang QL, Xu J, Zhang Z, et al. Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets. Biochem Biophys Res Commun. 2012;423(4):793-8.
Kang, Q. L., Xu, J., Zhang, Z., He, J. W., Lu, L. S., Fu, W. Z., & Zhang, Z. L. (2012). Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets. Biochemical and Biophysical Research Communications, 423(4), 793-8. https://doi.org/10.1016/j.bbrc.2012.06.042
Kang QL, et al. Three Novel PHEX Gene Mutations in Four Chinese Families With X-linked Dominant Hypophosphatemic Rickets. Biochem Biophys Res Commun. 2012 Jul 13;423(4):793-8. PubMed PMID: 22713460.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets. AU - Kang,Qing-lin, AU - Xu,Jia, AU - Zhang,Zeng, AU - He,Jin-wei, AU - Lu,Lian-song, AU - Fu,Wen-zhen, AU - Zhang,Zhen-lin, Y1 - 2012/06/16/ PY - 2012/06/05/received PY - 2012/06/09/accepted PY - 2012/6/21/entrez PY - 2012/6/21/pubmed PY - 2012/10/23/medline SP - 793 EP - 8 JF - Biochemical and biophysical research communications JO - Biochem Biophys Res Commun VL - 423 IS - 4 N2 - 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. SN - 1090-2104 UR - https://www.unboundmedicine.com/medline/citation/22713460/Three_novel_PHEX_gene_mutations_in_four_Chinese_families_with_X_linked_dominant_hypophosphatemic_rickets_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0006-291X(12)01130-8 DB - PRIME DP - Unbound Medicine ER -