Study of a Candidate Gene Involved in Goldenhar Syndrome.

Completed

• Conditions: Goldenhar Syndrome; Oculoauriculovertebral Dysplasia

• Registration Number: NCT04056858
• Lead Sponsor: University Hospital, Bordeaux

Brief 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.

Study Timeline

• Study Start: 2012-09-29
• Primary Completion: 2014-01-08
• Study Completion: 2014-01-08
• Status Verified: 2019-08
• Study First Submitted: 2019-08-12
• Study First Submitted QC: 2019-08-12
• Last Update Submitted: 2019-08-12
• Study First Posted: 2019-08-14
• Last Update Posted: 2019-08-14

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 248

Inclusion Criteria

• Spectrum of oculoauriculovertebral dysplasia minimal features include unilateral microtia and hemifacial microsomia

Exclusion Criteria

• Absence of minimal spectrum of oculoauriculovertebral dysplasia features, molecular anomaly identified, other diagnosis

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
presence of sequence variation	At the screening	Identification of the first gene involved in Goldenhar syndrome