Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Roetzer, KM; Varga, F; Zwettler, E; Nawrot-Wawrzyniak, K; Haller, J; Forster, E; Klaushofer, K.
Novel PHEX mutation associated with hypophosphatemic rickets
NEPHRON PHYSIOL. 2007; 106(1): 8-12.
Doi: 10.1159/000101487
(- Case Report)
Web of Science
PubMed
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FullText_MUG
- Führende Autor*innen der Med Uni Graz
- Rötzer Katharina Magdalena
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- Abstract:
- BACKGROUND: X-linked hypophosphatemia (XLH) is the most prevalent heritable form of rickets. It is a dominantly inherited disorder, characterized by renal phosphate wasting, abnormal vitamin D and PTH metabolism, and defective bone mineralization. Inactivating mutations in the gene encoding PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome) have been found to be associated with XLH. METHODS: We report about a 54-year-old male patient who exhibited the typical features of XLH, and in whom mutational analysis using PCR and sequencing was performed. Additionally, extensive laboratory and radiological investigations were carried out. RESULTS: A 1-bp deletion in exon 2 of the PHEX gene was detected (177delC), which, to the best of our knowledge, has not been reported yet. This deletion results in a premature stop codon (C59X), suggesting a truncation of the PHEX protein. Furthermore, elevated FGF23 and PTH levels as well as an increased axial bone mineral density score were measured. CONCLUSIONS: We present a male patient with XLH, who harbors a novel mutation in the PHEX gene, which might be the cause for his disease. Our data support previous findings and therefore contribute to the decipherment of the pathogenetic pathways of XLH.
- Find related publications in this database (using NLM MeSH Indexing)
- Base Sequence -
- Genetic Predisposition to Disease - genetics
- Humans - genetics
- Hypophosphatemic Rickets, X-Linked Dominant - diagnosis
- Male - diagnosis
- Middle Aged - diagnosis
- Molecular Sequence Data - diagnosis
- Mutation - diagnosis
- PHEX Phosphate Regulating Neutral Endopeptidase - genetics
- Polymorphism, Single Nucleotide - genetics