Wednesday, June 15, 2016

PHEX mutations database

As we're gearing up  to launch our natural history study platform in conjunction with the National Organization for Rare Disorders (NORD), which you can read about here (, we're thinking about the various pieces of information that it might be useful to collect.

One of those pieces of information is the exact mutation that caused a patient's phosphate wasting. To date, no one has been able to say for sure whether there is any correlation between the specific mutation and the nature/severity of a patient's symptoms. That's certainly something that both patients and clinicians would love to know for sure, though.

Not everyone gets genetic testing, since it can be expensive and not always covered by insurance, but did you know that there's a database of these mutations?

There's a site, maintained by Yves Sabbagh, PhD, that collects these mutations. He explains, "The PHEXdb is a database that collects and makes available all the known mutations that have been identified in the PHEX gene which is associated with the rare disease X-linked hyphosphatemia, the most common form of
inherited/genetic rickets. PHEXdb provides a search engine to query for a
specific mutation and also provides a submission form for people who
would like to submit mutations to the database."

If you know your (or your child's) mutation, and it's not in the database, he'd love to hear from you, and you'd be added to the body of data about XLH. You can submit your mutation here:

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