NCT04056858

Study of a Candidate Gene Involved in Goldenhar Syndrome.

Identification and Investigation of a Gene Involved in Monogenic Forms of Goldenhar Syndrome.

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 248 (actual)
• Sponsor: University Hospital, Bordeaux · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

The aim of this study is to identify of the first gene involved in the Goldenhar syndrome in a cohort of 120 affected patients.

Detailed description

Goldenhar syndrome belongs to the heterogeneous spectrum of oculoauriculovertebral dysplasia. Several chromosomal abnormalities have been described associated with this spectrum, and furthermore mutations in different genes of development cause abnormalities of the jaw or facial asymmetries in human or mouse. To date, no gene has been identified as formally involved in the genesis of the OAVS, despite evidence of familial cases, mostly with autosomal dominant inheritance. The aim of this study is to identify of the first gene involved in the Goldenhar syndrome in a cohort of 120 affected patients.

Conditions

• Goldenhar Syndrome
• Oculoauriculovertebral Dysplasia

Timeline

• Start date: 2012-09-29
• Primary completion: 2014-01-08
• Completion: 2014-01-08
• First posted: 2019-08-14
• Last updated: 2019-08-14