Is there a single mutation responsible for XLH?
So far, approximately one 175 different mutations in a particular section of the X chromosome have been identified for XLH. Scientists update a database of each of the possible mutations as each one is discovered. An XLH patient might have one of these mutations, or a new one that has not yet been described. People are often unaware that everyone in the world has about 10 different mutations in their own genetic code. Often these mutations have no apparent effect; but sometimes, as in the case of XLH, their effects can be significant. A database of XLH mutations is available here: http://www.phexdb.mcgill.
So far, approximately one 175 different mutations in a particular section of the X chromosome have been identified for XLH. Scientists update a database of each of the possible mutations as each one is discovered. An XLH patient might have one of these mutations, or a new one that has not yet been described. People are often unaware that everyone in the world has about 10 different mutations in their own genetic code. Often these mutations have no apparent effect; but sometimes, as in the case of XLH, their effects can be significant. A database of XLH mutations is available here: http://www.phexdb.mcgill.
