Study of a Candidate Gene Involved in Goldenhar Syndrome. (GOLDGEN)

University Hospital of Bordeaux

Status: Completed

Conditions: Goldenhar Syndrome; Oculoauriculovertebral Dysplasia

Study type: Observational

Funder types: Other

Identifiers

NCT04056858

CHU BX 2012/11

Details and patient eligibility

About

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

Full 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.

Enrollment: 248 patients

Sex: All

Volunteers: No Healthy Volunteers

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