Genetics and genomic characterization of Congenital Upper Limb Anomalies
- Conditions
- Congenital hand differencesHereditary hand disease10028396
- Registration Number
- NL-OMON41954
- Lead Sponsor
- Plastische en Reconstuctieve Chirurgie en Handchirurgie
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Pending
- Sex
- Not specified
- Target Recruitment
- 225
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
Non consenting parents or family members
Positive conventional genetic test for know mutation
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>1. Determine novel pathogenic gene mutations in families with congenital upper<br /><br>limb anomalies by whole genome sequencing;<br /><br>2. Determine the contribution of these genes in embryonic development,<br /><br>including proliferation and cell death.</p><br>
- Secondary Outcome Measures
Name Time Method <p>Secondary Objectives:<br /><br>1. Evaluate the significance of whole genome sequencing in determining risk<br /><br>genes in syndromal or hereditary congentinal upper limb abnormalities<br /><br>2. Understand the heredity and the consequences of the new found mutations to<br /><br>ameliorate counselling</p><br>