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In the Turkish population, PHEX mutation is also the most common cause of HR, accounting for 87% cases (55,70,71).
These clinical and laboratory findings suggest HR but confirmation of diagnosis requires genetic confirmation of PHEX mutations.
The most common genetic cause of HR is XLDHR resulting from PHEX mutations.
"The PHEX finding is important because it helps to rule out sample contamination," Schweitzer says.
Chromosome Xp22.1 12p13 Gene PHEX FGF23 ARHR HHRH Prevalence Rare Rare, 1 large kindred, 4 small kindreds, several sporadic cases Serum phosphorous Low Low Serum calcium Normal Normal/high 1,25[(OH).sub.2] D3 Normal/low High PTH Normal Suppressed TmP/GFR Decreased Decreased Urine calcium Normal Elevated Dental defect Not reported None Muscle weakness Not reported Present Inheritance Autosomal recessive Autosomal recessive Penetrance Variable Variable Chromosome Unknown Unknown Gene DMP1 SLC34C3
PHEX, DMP1 and FGF23 are expressed by the osteocyte, but it is unclear how PHEX and DMP1 regulate FGF23 production.
It appears that the ASARM peptide may be the substrate for PHEX, which degrades ASARM allowing mineralization to take place (9).
Following clinical and laboratory assessment, PHEX analysis was made initially unless a mutation in another gene was suspected.
We found 10 different PHEX mutations in 17 (80.9%) patients, one novel SLC34A3 mutation in two siblings (9.5%), and no mutation in 2 patients (9.5%).
These cases are often caused by a mutation in the protein PHEX.Boukpessi et al hypothesized that PHEX impairment resulted in the release of a peptide, ASARM, which is known to inhibit dentin mineralization.
The prevalence of X-linked hypophosphataemia (XLH), is about 1/20,000 live births [Jan and Levine, 2008], and is caused by inactivating mutations of the PHEX (Phosphate regulating gene with Homologies to Endopeptidases on the X-chromosome) gene [Filho et al., 2006].
CHO-cells expressing MEPE, PHEX and co-expressing MEPE/PHEX cause major changes in BMD, Pi and serum alkaline phosphatase in nude mice (Abstract).
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