Clubfoot DNA Repository

To build a DNA repository to enable participation in ongoing and future Clubfoot genetic linkage studies.

Clubfoot is a birth defect that can occur alone (in isolation) or as a part of a disease like cerebral palsy (CP). Genetic linkage is a research tool in which DNA samples are tested for genetic landmarks (markers) whose location on chromosomes is known. Genes and markers that are physically close to one another on the chromosome are said to be tightly linked than genes and markers that are located far apart. This gives clues of where to search for genes causing isolated clubfoot. If there appears to be a high correlation between family members' inheritance of a particular marker, and their inheritance of the trait being studied (in this case clubfoot), the area of the chromosome near that marker can then be searched for a likely gene which causes the trait. It is hoped that genetic linkage research might eventually result in new or improved ways to determine individuals and families at higher risk for clubfoot and development of new or improved ways to treat clubfoot.

Our research staff will obtain information about each subject and their family called a pedigree. We will then administer a one page questionnaire to the mother(s) of the affected individual(s). This questionnaire will ask about the mother's experiences during pregnancy (e.g. Did she take multivitamins? Did she smoke or drink? etc.)

Each of the study participants (affected and non-affected individuals) will be asked to provide DNA from a blood sample. If collecting a blood sample is not possible we can also obtain DNA by collecting a saliva sample.

Samples for DNA processing will be stored according to the following repository guidelines. Patient/donor-subject information, questionnaires, and consents will be maintained by the orthopaedic research coordinator.

Samples will be made to investigators not affiliated with UT Southwestern who wish to study genetic factors that cause clubfoot; for example, we have recently been approached by Jacqueline Hecht (UT Health Science Center, Houston) and Matthew Dobbs (Washington University, St. Louis) regarding participation in their multicenter trials. Samples will be de-identified and will include no personal information which would link the sample to the donor subject.

Primary investigator and sub-investigators will determine how samples will be used and by whom. Additional research utilizing subjects' samples will be approved by the TSRHC Research Advisory panel and the IRB at UT Southwestern.

Patients being treated at the participating facilities with a diagnosis of clubfoot, and their affected family members.

Inclusion Criteria:

• For a family to be included in this study there should be at least one person in the family affected with Idiopathic Talipes Equinovarus (or clubfoot). If the person satisfies this criterion, then the affected person and his/her parents are included in the study. If there are other individuals in the family who are also affected (e.g. a cousin), then these individuals are also invited to participate in the study along with their parents, siblings and all other family members that link the two affected individuals (e.g. grandparents).

Exclusion Criteria:

• Inability to speak and read English or Spanish
• Should not have any other major birth defect (e.g. Heart defects, Downs Syndrome or cerebral palsy).