- Philadelphia PA, US Dong Li - Drexel Hill PA, US Lifeng Tian - Wilmington DE, US Kenny Nguyen - Aberdeen NJ, US Patrick Sleiman - Philadelphia PA, US
Assignee:
THE CHILDREN'S HOSPITAL OF PHILADELPHIA - Philadelphia PA
- Philadelphia PA, US Dong Li - Drexel Hill PA, US Lifeng Tian - Wilmington DE, US Kenny Nguyen - Aberdeen NJ, US Patrick Sleiman - Philadelphia PA, US
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.
Mutations In Pdgfrb And Notch3 As Causes Of Autosomal Dominant Infantile Myofibromatosis
- New York NY, US - Philadelphia PA, US Lifeng TIAN - Philadelphia PA, US
Assignee:
CHILDREN'S HOSPITAL OF PHILADELPHIA - Philadelphia PA ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI - New York NY
International Classification:
C12Q 1/68 A61K 45/06 A61N 5/00 A61K 31/506
Abstract:
This invention relates to a method of diagnosing a subject as having and/or being a carrier for infantile myo fibromatosis. 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.