A L Petrin, Lam Machado-Paula, A Hinkle, L Hovey, W Awotoye, M Chimenti, B Darbro, L A Ribeiro-Bicudo, S M Dabdoub, T Peter, J Murray, E Van Otterloo, S Rengasamy Venugopalan, L M Moreno-Uribe
BACKGROUND: Oculoauriculovertebral Spectrum (OAVS) encompasses a wide variety of anomalies on derivatives from the first and second pharyngeal arches including macrostomia, hemifacial microsomia, micrognathia, preauricular tags, ocular and vertebral anomalies. We present the genetic findings of a large three-generation family with multiple members affected with macrostomia, preauricular tags and uni- or bilateral ptosis following an autosomal dominant segregation pattern. METHODS: We generated whole genome sequencing data for the proband, affected parent and unaffected paternal grandparent followed by Sanger sequencing on 23 family members for the top 10 candidate genes: KCND2, PDGFRA, CASP9, NCOA3, WNT10A, SIX1, MTF1, KDR/VEGFR2, LRRK1 , and TRIM2 ...
February 7, 2024: medRxiv