A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets.
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.
Kim
Juwon
J
Department of Laboratory Medicine, Yonsei University College of Medicine, 146-9 Dogokdong, Kangnamgu 146-92, Seoul, Korea.
Yang
Kyu Hyun
KH
Nam
Ji Sun
JS
Choi
Jong Rak
JR
Song
Jaewoo
J
Chang
Myungsook
M
Lee
Kyung-A
KA
D000328:Adult; D041321:Chromosomes, Human, X; D003062:Codon / Q000235:genetics; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D005091:Exons; D053098:Familial Hypophosphatemic Rickets / Q000235:genetics*; D005260:Female; D005360:Fibula; D050723:Fractures, Bone / Q000235:genetics; D040181:Genetic Diseases, X-Linked; D006801:Humans; D007438:Introns; D009154:Mutation; D053402:PHEX Phosphate Regulating Neutral Endopeptidase / Q000235:genetics*; D010508:Periodontal Abscess / Q000235:genetics; D013978:Tibial Fractures / Q000235:genetics
D003062:Codon; D004247:DNA; D053402:PHEX Phosphate Regulating Neutral Endopeptidase; C506231:PHEX protein, human