RT Journal Article
SR Electronic
T1 Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 417
OP 427
DO 10.1136/jmedgenet-2021-108219
VO 59
IS 5
A1 Angèle Tingaud-Sequeira
A1 Aurélien Trimouille
A1 Thomas Sagardoy
A1 Didier Lacombe
A1 Caroline Rooryck
YR 2022
UL http://jmg.bmj.com/content/59/5/417.abstract
AB 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.