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• W2903813311 abstract "Abstract Background Gnathodiaphyseal dysplasia (GDD) is a rare skeletal disorder that has not been well studied. Methods Sanger sequencing, whole‐genome sequencing (WGS), and bioinformatics and structural modeling analyses were performed. Results A family with patients with fibro‐osseous lesions of the jawbones were initially diagnosed with cherubism. Sequencing of SH3BP2 , which is the causal gene of cherubism, revealed no pathogenic mutation. Through WGS, we identified a novel mutation c.1067G>T (p.C356F) in ANO5 , and bioinformatics analyses and structural modeling showed that the mutation was deleterious. Because ANO5 is the gene responsible for GDD, we reappraised the clinical data of the patients, and the diagnosis was corrected to atypical GDD. A review of the literature showed that 67% of GDD cases confirmed by molecular testing were initially misdiagnosed. Conclusions The novel mutation c.1067G>T (p.C356F) in ANO5 is responsible for the atypical GDD observed in our patients. GDD should be included in the differential diagnosis for patients with fibro‐osseous lesions." @default.
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• W2903813311 date "2018-12-15" @default.
• W2903813311 modified "2023-09-24" @default.
• W2903813311 title "Novel <i>ANO5</i> mutation c.1067G>T (p.C356F) identified by whole genome sequencing in a big family with atypical gnathodiaphyseal dysplasia" @default.
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• W2903813311 doi "https://doi.org/10.1002/hed.25516" @default.
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