Genetic Linkage Study of Idiopathic Talipes Equinovarus (ITEV) (Clubfoot)
| Status: | Completed |
|---|---|
| Conditions: | Orthopedic, Cosmetic |
| Therapuetic Areas: | Dermatology / Plastic Surgery, Orthopedics / Podiatry |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 5/3/2014 |
| Start Date: | August 2004 |
| End Date: | September 2013 |
| Contact: | Harpreet Chhina, MSC |
| Email: | hchhina@cw.bc.ca |
| Phone: | 604-875-2000 |
The goal of this study is to identify and characterize the genetic loci causing idiopathic
talipes equinovarus (clubfoot).
The hypothesis is that a few genes account for a substantial fraction of ITEV and that these
genes can be identified in defined populations. Towards this goal, in preliminary studies,
Dr. Hecht's group has identified two genes, NAT2 and CASP10, which demonstrate evidence for
linkage and association to ITEV.
talipes equinovarus (clubfoot).
The hypothesis is that a few genes account for a substantial fraction of ITEV and that these
genes can be identified in defined populations. Towards this goal, in preliminary studies,
Dr. Hecht's group has identified two genes, NAT2 and CASP10, which demonstrate evidence for
linkage and association to ITEV.
Blood Collection: For this study, the investigators need to obtain blood samples from
members of families in which clubfoot has occurred; more specifically, blood samples from
the affected child and both parents. DNA will be extracted from blood samples. The DNA
will then be tested to look for genetic factors that cause clubfoot.
Study Questionnaires: As well as the blood samples, the investigators have a short
questionnaire for the mother of the child with clubfoot to complete.
members of families in which clubfoot has occurred; more specifically, blood samples from
the affected child and both parents. DNA will be extracted from blood samples. The DNA
will then be tested to look for genetic factors that cause clubfoot.
Study Questionnaires: As well as the blood samples, the investigators have a short
questionnaire for the mother of the child with clubfoot to complete.
Inclusion Criteria:
- One family member, usually child, must have clubfoot
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