Novel PHEX gene mutations in two Taiwanese patients with hypophosphatemic rickets

Yen-Yin Chou, Sheau-Chiou Chao, Shang Chun Tsai, Shio Jean Lin

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Hypophosphatemic rickets is a genetic disorder commonly associated with renal phosphate wasting and bone deformities. The PHEX gene (phosphate regulating gene with homologies to endopeptidases on the X chromosome) encodes a 749-amino acid protein that putatively consists of an intracellular, transmembrane, and extracellular domain. PHEX mutations have been observed in 60-80% of hypophosphatemic rickets patients. In this study, we report 2 de novo novel mutations in 2 Taiwanese girls with clinical characteristics of hypophosphatemic rickets. The presenting phenotype of lower extremity deformities and short stature was suggestive of the diagnosis. Primers flanking 22 exons were used to amplify DNA polymerase chain reaction. The results by direct DNA sequencing of case 1 revealed a C to T transition changing glutamine at codon 224 in exon 6 to a stop codon (Q224X). The result of case 2 showed a 2-base pair deletion (2090delGA) and resulted in a frameshift and premature termination of codon (PTC+19aa). Both mutations presumably a result in a truncated protein, leading to loss of function of PHEX. This is the first report of PHEX gene mutation in the Taiwanese population.

Original languageEnglish
Pages (from-to)198-202
Number of pages5
JournalJournal of the Formosan Medical Association
Volume104
Issue number3
Publication statusPublished - 2005

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Hypophosphatemic Rickets
Mutation
Genes
Exons
Phosphates
Endopeptidases
Inborn Genetic Diseases
Factor IX
Terminator Codon
Nonsense Codon
X Chromosome
DNA-Directed DNA Polymerase
Glutamine
DNA Sequence Analysis
Codon
Base Pairing
Lower Extremity
Proteins
Phenotype
Kidney

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

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abstract = "Hypophosphatemic rickets is a genetic disorder commonly associated with renal phosphate wasting and bone deformities. The PHEX gene (phosphate regulating gene with homologies to endopeptidases on the X chromosome) encodes a 749-amino acid protein that putatively consists of an intracellular, transmembrane, and extracellular domain. PHEX mutations have been observed in 60-80{\%} of hypophosphatemic rickets patients. In this study, we report 2 de novo novel mutations in 2 Taiwanese girls with clinical characteristics of hypophosphatemic rickets. The presenting phenotype of lower extremity deformities and short stature was suggestive of the diagnosis. Primers flanking 22 exons were used to amplify DNA polymerase chain reaction. The results by direct DNA sequencing of case 1 revealed a C to T transition changing glutamine at codon 224 in exon 6 to a stop codon (Q224X). The result of case 2 showed a 2-base pair deletion (2090delGA) and resulted in a frameshift and premature termination of codon (PTC+19aa). Both mutations presumably a result in a truncated protein, leading to loss of function of PHEX. This is the first report of PHEX gene mutation in the Taiwanese population.",
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Novel PHEX gene mutations in two Taiwanese patients with hypophosphatemic rickets. / Chou, Yen-Yin; Chao, Sheau-Chiou; Tsai, Shang Chun; Lin, Shio Jean.

In: Journal of the Formosan Medical Association, Vol. 104, No. 3, 2005, p. 198-202.

Research output: Contribution to journalArticle

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