Congenital hand differences Hereditary hand disease
Conditions
Interventions
None listed
Sponsors
Plastische en Reconstuctieve Chirurgie en Handchirurgie
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: Patients will be selected for next generation sequencing when they have a hereditary congenital upper limb anomaly while no known mutation was found in conventional test by the department of Clinical Genetics. Parents will be sequenced as well. Affected family members will be approached and asked to join the study. All patients, parents and family members are included in the 225 subjects.
Exclusion criteria
Exclusion criteria: Non consenting parents or family members Positive conventional genetic test for know mutation
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1. Determine novel pathogenic gene mutations in families with congenital upper limb anomalies by whole genome sequencing; 2. Determine the contribution of these genes in embryonic development, including proliferation and cell death. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary Objectives: 1. Evaluate the significance of whole genome sequencing in determining risk genes in syndromal or hereditary congentinal upper limb abnormalities 2. Understand the heredity and the consequences of the new found mutations to ameliorate counselling | — |
Countries
Netherlands
Outcome results
None listed