Molecular Genetics of Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins (ACDMPV)
We demonstrated that haploinsufficiency of the transcriptional factor FOXF1 gene on 16q24.1 results in a lethal neonatal diffuse lung developmental disorder alveolar capillary dysplasia with misalignment of pulmonary veins. Infants affected with ACDMPV develop severe respiratory distress with pulmonary hypertension within the first two days of life and despite of intensive care die within first few days of life. We investigate the role of lncRNAs in a long range regulation of FOXF1 expression.
Postmortem genetic testing of the FOXF1 gene in the infant’s blood or lung autopsy or biopsy sample and parents’ blood samples will be performed on a research basis after the initial ACDMPV diagnosis is verified by an experienced pathologist at Texas Children’s Hospital in Houston. First it’s important to speak to your pathologist or physician so that your infant’s samples can be sent to Baylor College of Medicine. Your medical team should be able to coordinate this for you.
The samples and information required are:
- A lung biopsy or autopsy sample of lung tissue. These can be sent as slides (stained or unstained) and/or formalin fixed paraffin embedded (FFPE) lung tissue block.
- The local pathology report of the lung biopsy or autopsy, if available.
- 3Your infant’s blood (if stored in +4C fridge) or isolated blood DNA (blood sample containing only genetic material) in EDTA tubes (purple top) if available. If a blood sample is not available frozen lung tissue can also be used to obtain DNA.
- 4Completed and signed consent forms.
Pawel Stankiewicz, M.D., Ph.D.
Department of Molecular & Human Genetics
Baylor College of Medicine
One Baylor Plaza, Room ABBR-R809
Houston TX, 77030
Phone: (713) 798-5370
Fax: (713) 798-7418