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

xlomafota13 shared this article with you from Inoreader Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease Via oto-rhino-laryngologie J Med Genet. 2022 Feb 2:jmedgenet-2021-108219. doi: 10.1136/jmedgenet-2021-108219. Online ahead of print. ABSTRACT 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 managemen t, in order to help and improve clinical care and genetic counselling of these patients and their families. PMID:35110414 | DOI:10.1136/jmedgenet-2021-108219 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.