Tags

Type your tag names separated by a space and hit enter

A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets.
Ann Clin Lab Sci. 2009 Spring; 39(2):182-7.AC

Abstract

Mutations including nonsense mutations, missense mutations, splicing-site mutations, insertions, and deletions in phosphate regulating genes on the X-chromosome (PHEX) are known to be responsible for X-linked hypophosphatemic rickets. The PHEX gene encodes an endopeptidase that is involved in phosphate regulation. Herein we present a female patient with sporadic hypophosphatemic rickets harboring a novel deletion mutation (c.1586_1586+1delAG; p.Glu529GlyfsX41) at exon 14 and intron 14 junction, which caused a premature termination at codon 569 and possibly produced a truncated PHEX protein. The laboratory and radiologic findings of the patient are reviewed to correlate the impact of the two-base deletion mutations at the exon-intron junction.

Authors+Show Affiliations

Department of Laboratory Medicine, Yonsei University College of Medicine, 146-9 Dogokdong, Kangnamgu 146-92, Seoul, Korea.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

19429806

Citation

Kim, Juwon, et al. "A Novel PHEX Mutation in a Korean Patient With Sporadic Hypophosphatemic Rickets." Annals of Clinical and Laboratory Science, vol. 39, no. 2, 2009, pp. 182-7.
Kim J, Yang KH, Nam JS, et al. A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets. Ann Clin Lab Sci. 2009;39(2):182-7.
Kim, J., Yang, K. H., Nam, J. S., Choi, J. R., Song, J., Chang, M., & Lee, K. A. (2009). A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets. Annals of Clinical and Laboratory Science, 39(2), 182-7.
Kim J, et al. A Novel PHEX Mutation in a Korean Patient With Sporadic Hypophosphatemic Rickets. Ann Clin Lab Sci. 2009;39(2):182-7. PubMed PMID: 19429806.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets. AU - Kim,Juwon, AU - Yang,Kyu Hyun, AU - Nam,Ji Sun, AU - Choi,Jong Rak, AU - Song,Jaewoo, AU - Chang,Myungsook, AU - Lee,Kyung-A, PY - 2009/5/12/entrez PY - 2009/5/12/pubmed PY - 2009/7/9/medline SP - 182 EP - 7 JF - Annals of clinical and laboratory science JO - Ann Clin Lab Sci VL - 39 IS - 2 N2 - Mutations including nonsense mutations, missense mutations, splicing-site mutations, insertions, and deletions in phosphate regulating genes on the X-chromosome (PHEX) are known to be responsible for X-linked hypophosphatemic rickets. The PHEX gene encodes an endopeptidase that is involved in phosphate regulation. Herein we present a female patient with sporadic hypophosphatemic rickets harboring a novel deletion mutation (c.1586_1586+1delAG; p.Glu529GlyfsX41) at exon 14 and intron 14 junction, which caused a premature termination at codon 569 and possibly produced a truncated PHEX protein. The laboratory and radiologic findings of the patient are reviewed to correlate the impact of the two-base deletion mutations at the exon-intron junction. SN - 1550-8080 UR - https://www.unboundmedicine.com/medline/citation/19429806/A_novel_PHEX_mutation_in_a_Korean_patient_with_sporadic_hypophosphatemic_rickets_ L2 - http://www.annclinlabsci.org/cgi/pmidlookup?view=long&pmid=19429806 DB - PRIME DP - Unbound Medicine ER -