Study of a Candidate Gene Involved in Goldenhar Syndrome.

University Hospital, Bordeaux248 enrolled

Overview

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

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 Type

OBSERVATIONAL

Enrollment

248

Conditions

Goldenhar Syndrome Oculoauriculovertebral Dysplasia

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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

Outcomes

Primary Outcomes

presence of sequence variation

Identification of the first gene involved in Goldenhar syndrome

Time frame: At the screening

Data from ClinicalTrials.gov

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