Auriculocondylar Syndrome: Pathogenesis, Clinical manifestations and Surgical therapies

Li, Qingqing; Jiang, Zhiyuan; Chen, Zaihong; Cui, Wei; Sheng, Yang; Zhang, Liyuan; Cai, Zhen; Cai, Zhen

doi:10.22541/au.166186270.00573751/v1

Cited by 2 publications

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“…(Gordon, Petit, et al., 2013; Kido et al., 2013; Leoni et al., 2016; Masotti et al., 2007; Rieder et al., 2012; Romanelli et al., 2015). The most commonly mutated gene in individuals with ARCND is PLCB4 gene (Li et al., 2023; Vegas et al., 2022) which was reported in only about 36 cases worldwide.…”

Section: Introductionmentioning

confidence: 99%

Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature

Zhang,

Zhao,

Dai

et al. 2024

Molec Gen & Gen Med

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BackgroundAuriculocondylar syndrome (ARCND) is a rare congenital craniofacial developmental malformation syndrome of the first and second pharyngeal arches with external ear malformation at the junction between the lobe and helix, micromaxillary malformation, and mandibular condylar hypoplasia. Four subtypes of ARCND have been described so far, that is, ARCND1 (OMIM # 602483), ARCND2 (ARCND2A, OMIM # 614669; ARCND2B, OMIM # 620458), ARCND3 (OMIM # 615706), and ARCND4 (OMIM # 620457).MethodsThis study reports a case of ARCND2 resulting from a novel pathogenic variant in the PLCB4 gene, and summarizes PLCB4 gene mutation sites and phenotypes of ARCND2.ResultsThe proband, a 5‐day‐old male neonate, was referred to our hospital for respiratory distress. Micrognathia, microstomia, distinctive question mark ears, as well as mandibular condyle hypoplasia were identified. Trio‐based whole‐exome sequencing identified a novel missense variant of NM_001377142.1:c.1928C>T (NP_001364071.1:p.Ser643Phe) in the PLCB4 gene, which was predicted to impair the local structural stability with a result that the protein function might be affected. From a review of the literature, only 36 patients with PLCB4 gene mutations were retrieved.ConclusionAs with other studies examining familial cases of ARCND2, incomplete penetrance and variable expressivity were observed within different families' heterozygous mutations in PLCB4 gene. Although, motor and intellectual development are in the normal range in the vast majority of patients with ARCND2, long‐term follow‐up and assessment are still required.

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Section: Introductionmentioning

confidence: 99%

Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature

Zhang,

Zhao,

Dai

et al. 2024

Molec Gen & Gen Med

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“…The typical triad manifestations of ARCND are question mark ears (QMEs), mandibular condyle hypoplasia and micrognathia [2]. In addition, other facial abnormalities [3] and hearing [4], respiratory [5], digestive [6], reproductive [7], even developmental [5] systems have also been reported sometimes. However, differences in gene expression led to a large range of differences in clinical phenotypes between individuals and families [6].…”

Section: Introductionmentioning

confidence: 99%

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

Shi,

Rong,

Liu

et al. 2024

Preprint

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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.

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Auriculocondylar Syndrome: Pathogenesis, Clinical manifestations and Surgical therapies

Cited by 2 publications

References 0 publications

Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature

Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature

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

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