1. Novel ANO5 mutation c.1067GT (p.C356F) identified by whole genome sequencing in a big family with atypical gnathodiaphyseal dysplasia
- Author
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James A. Hamilton, Zhanpeng Ou, Zhaoyu Lin, Weixiong Chen, Dongsheng Yu, Song Fan, Michael Ho-Young Ahn, Wei-liang Chen, Bing-Hao Wu, Junkun Liao, Sheng Sun, Qunxing Li, Jinsong Li, Nasi Huang, Sha Fu, Binghui Zeng, Hanqing Zhang, Soldano Ferrone, Fengbo Mo, Jiali Hu, Xinhui Wang, and Guokai Pan
- Subjects
0301 basic medicine ,Adult ,Male ,China ,Adolescent ,Anoctamins ,Article ,03 medical and health sciences ,symbols.namesake ,Skeletal disorder ,Asian People ,SH3BP2 ,Medicine ,Humans ,Child ,Gene ,Genetics ,Whole genome sequencing ,Sanger sequencing ,Whole Genome Sequencing ,business.industry ,Sequence Analysis, DNA ,Middle Aged ,Osteogenesis Imperfecta ,medicine.disease ,Cherubism ,Pedigree ,030104 developmental biology ,Otorhinolaryngology ,Child, Preschool ,Mutation (genetic algorithm) ,Mutation ,symbols ,Female ,Differential diagnosis ,business - Abstract
BACKGROUND: Gnathodiaphyseal dysplasia (GDD) is a rare skeletal disorder that has not been well studied. METHODS: Sanger sequencing, whole-genome sequencing, 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 whole-genome sequencing, 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.
- Published
- 2017