THE CHILDREN'S HOSPITAL OF PHILADELPHIA;ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
发明人:
John A. Martignetti,Hakon Hakonarson,Lifeng Tian
申请号：
US15788947
公开号：
US10155995B2
申请日:
2017.10.20
申请国别(地区):
US
年份:
2018
代理人:
摘要：
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.
