ArticleJournal of human genetics2021
A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1.
Article in Journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 7 citations in OpenAlex.
- Loss of the Asn333 high-mannoseiScience · 2026Article
- Endothelin signaling in development.Development (Cambridge, England) · 2023Review
- Predicting the pathogenicity of missense variants based on protein instability to support diagnosis of patients with novel variants of ARSL.Molecular genetics and metabolism reports · 2023Article
- Comparative Analysis of the GNAI Family Genes in Glioblastoma through Transcriptomics and Single-Cell Technologies.Cancers · 2023Article
- Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing.Journal of human genetics · 2023Article
- Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures.Journal of human genetics · 2022Article
- Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report.BMC pregnancy and childbirth · 2021Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
Auriculocondylar syndrome (ARCND) is an autosomal monogenic disorder characterised by external ear abnormalities and micrognathia due to hypoplasia of the mandibular rami, condyle and coronoid process. Genetically, three subtypes of ARCND (ARCND1, ARCND2 and ARCND3) have been reported. To date, five pathogenic variants of GNAI3 have been reported in ARCND1 patients. Here, we report a novel variant of GNAI3 (NM_006496:c.807C>A:p.(Asn269Lys)) in a Japanese girl with micrognathia using trio-based whole exome sequencing analysis. The GNAI3 gene encodes a heterotrimeric guanine nucleotide-binding protein. The novel variant locates the guanine nucleotide-binding site, and the substitution was predicted to interfere with guanine nucleotide-binding by in silico structural analysis. Three-dimensional computer tomography scan, or cephalogram, displayed severely hypoplastic mandibular rami and fusion to the medial and lateral pterygoid plates, which have been recognised in other ARCND1 patients, but have not been described in ARCND2 and ARCND3, suggesting that these may be distinguishable features in ARCND1.
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