Novel GNAI3 mutation in a Chinese auriculocondylar syndrome family and treatment of severe dentofacial deformities: A 5-years follow-up case report

Background Auriculocondylar syndrome (ARCND) is an extremely rare autosomal dominant or recessive condition and the typical triad manifestations of ARCND are question mark ears (QMEs), mandibular condyle hypoplasia, and micrognathia. This severe dental and maxillofacial malformations have caused great trouble to patient’s life and clinical treatment. Now only a few ARCND cases are reported in the world, but most of them are about genetic mutations, clinical symptoms, and ear correction, reports concerning treatment of dentofacial deformity are few. Case presentation We here present a rare Chinese family case with ARCND. A novel insertional mutation in guanine nucleotide-binding protein alpha-inhibiting activity polypeptide 3 ( GNAI3) was identified in the patient and the patient’s brother by whole-exome sequencing. After multidisciplinary consultation and examination, sequential orthodontic treatment and craniofacial surgery including distraction osteogenesis (DO) and orthognathic surgery were performed with the aid of three-dimensional (3D) digital technology to treat the patient’s dentofacial deformity. A good prognosis was achieved in 5-years follow-up, and the patient returned to normal life. Conclusion ARCND is a monogenic and rare condition, it could be diagnosed by its clinical triad core features. Molecular diagnosis plays a crucial role in patients who has unconspicuous clinical features. We present a novel insertion variation of GNAI3 which was identified in exon 2 of chromosome 110116384 in a Chinese family. The sequential therapy of preoperative orthodontic treatment combined with DO and orthognathic surgery guided by 3D digital technology could be a practical and effective method to treat ACSND.