Study of a Candidate Gene Involved in Goldenhar Syndrome.

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04056858

Acronym

GOLDGEN

Enrollment

248

Registered

2019-08-14

Start date

2012-09-29

Completion date

2014-01-08

Last updated

2019-08-14

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Goldenhar Syndrome, Oculoauriculovertebral Dysplasia

Keywords

array-CGH, exome sequencing

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

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

Design outcomes

Primary

Measure	Time frame	Description
presence of sequence variation	At the screening	Identification of the first gene involved in Goldenhar syndrome

Outcome results