Novel ANO5 mutation c.1067G>T (p.C356F) identified by whole genome sequencing in a big family with atypical gnathodiaphyseal dysplasia

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 jawbo...

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Published in:Head & neck 2019-01, Vol.41 (1), p.230-238
Main Authors: Zeng, Binghui, Liao, Junkun, Zhang, Hanqing, Fu, Sha, Chen, Weixiong, Pan, Guokai, Li, Qunxing, Chen, Weiliang, Ferrone, Soldano, Wu, Binghao, Sun, Sheng, Hu, Jiali, Ahn, Michael Ho‐Young, Lin, Zhaoyu, Yu, Dongsheng, Ou, Zhanpeng, Wang, Xinhui, Mo, Fengbo, Huang, Nasi, Hamilton, James A., Li, Jinsong, Fan, Song
Format: Article
Language:English
Subjects:
Adolescent
Adult
ANO5
Anoctamins - genetics
Asians - genetics
Bioinformatics
cherubism
Child
Child, Preschool
China
Differential diagnosis
Dysplasia
Female
Genomes
gnathodiaphyseal dysplasia
Head and neck
Humans
Literature reviews
Male
Middle Aged
Mutation
Osteogenesis Imperfecta - diagnosis
Osteogenesis Imperfecta - genetics
Pedigree
Sequence Analysis, DNA
SH3BP2
Whole Genome Sequencing
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Summary: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.
ISSN:1043-3074
1097-0347
DOI:10.1002/hed.25516