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A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets.

Authors
 Juwon Kim  ;  Kyu Hyun Yang  ;  Ji Sun Nam  ;  Jong Rak Choi  ;  Jaewoo Song  ;  Myungsook Chang  ;  Kyung-A Lee 
Citation
 ANNALS OF CLINICAL AND LABORATORY SCIENCE, Vol.39(2) : 182-187, 2009 
Journal Title
 ANNALS OF CLINICAL AND LABORATORY SCIENCE 
ISSN
 0091-7370 
Issue Date
2009
MeSH
Adult ; Chromosomes, Human, X* ; Codon/genetics ; DNA/blood ; DNA/genetics ; DNA/isolation & purification ; Exons ; Familial Hypophosphatemic Rickets/genetics* ; Female ; Fibula ; Fractures, Bone/genetics ; Genetic Diseases, X-Linked* ; Humans ; Introns ; Mutation ; PHEX Phosphate Regulating Neutral Endopeptidase/genetics* ; Periodontal Abscess/genetics ; Tibial Fractures/genetics
Keywords
phosphate regulating gene ; PHEX mutations ; X-chromosome ; hypophosphatemic rickets
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.
Full Text
http://www.annclinlabsci.org/content/39/2/182.long
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Orthopedic Surgery (정형외과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Nam, Ji Sun(남지선) ORCID logo https://orcid.org/0000-0001-8655-5258
Song, Jae Woo(송재우) ORCID logo https://orcid.org/0000-0002-1877-5731
Yang, Kyu Hyun(양규현) ORCID logo https://orcid.org/0000-0001-7183-588X
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/103790
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