Mutations in PDGFRB and NOTCH3 as causes of autosomal dominant infantile myofibromatosis
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United States of America Patent
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Nov 21, 2017
Grant Date -
Mar 24, 2016
app pub date -
Apr 22, 2014
filing date -
Apr 22, 2013
priority date (Note) -
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Abstract
This invention relates to a method of diagnosing a subject as having and/or being a carrier for infantile myofibromatosis. This method involves providing an isolated biological sample from a subject; contacting the sample with one or more reagents suitable for detecting the presence or absence of one or more mutations in PDGFRB and/or NOTCH3; detecting, in the sample, the presence or absence of the one or more mutations in PDGFRB and/or NOTCH3 based on said contacting; and diagnosing the subject as having and/or being a carrier for infantile myofibromatosis based on said detecting, where the presence of the one or more mutations in PDGFRB and/or NOTCH3 indicates the subject has a mutation that causes infantile myofibromatosis. Also disclosed is a method of treating a subject having infantile myofibromatosis and a method of preventing or treating symptoms associated with infantile myofibromatosis.
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