Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease. - Archive ouverte HAL
Article Dans Une Revue Journal of Medical Genetics Année : 2022

Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.

Résumé

Oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome is due to an abnormal development of first and second branchial arches derivatives during embryogenesis and is characterised by hemifacial microsomia associated with auricular, ocular and vertebral malformations. The clinical and genetic heterogeneity of this spectrum with incomplete penetrance and variable expressivity, render its molecular diagnosis difficult. Only a few recurrent CNVs and genes have been identified as causatives in this complex disorder so far. Prenatal environmental causal factors have also been hypothesised. However, most of the patients remain without aetiology. In this review, we aim at updating clinical diagnostic criteria and describing genetic and non-genetic aetiologies, animal models as well as novel diagnostic tools and surgical management, in order to help and improve clinical care and genetic counselling of these patients and their families.

Domaines

Génétique
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Dates et versions

hal-04278581 , version 1 (10-11-2023)

Identifiants

Citer

Angele Tingaud-Sequeira, Aurelien Trimouille, Thomas Sagardoy, Didier Lacombe, Caroline Rooryck. Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.. Journal of Medical Genetics, 2022, 59 (5), pp.417-427. ⟨10.1136/jmedgenet-2021-108219⟩. ⟨hal-04278581⟩
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