Clubfoot DNA Repository

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.

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).