Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole-exome sequencing

Background: Hereditary multiple exostoses (HME), also referred to as multiple osteochondromas, is an autosomal dominant skeletal disease characterized by the development of multiple overgrown benign bony tumors capped by cartilage and is associated with bone deformity, joint limitation, and short st...

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Bibliographic Details
Main Authors:	Hu, T. (Author), Liu, S. (Author), Wang, H. (Author), Xiang, Q. (Author), Xie, H. (Author), Xu, B. (Author), Yang, M. (Author)
Format:	Article
Language:	English
Published:	John Wiley and Sons Inc 2021
Subjects:	adult Adult amino acid substitution Article Asian Asians bone radiography bone tumor carboxy terminal sequence case report child Child Child, Preschool Chinese clinical article clinical examination controlled study DNA extraction exon Exostoses, Multiple Hereditary exostosin-2 EXT2 EXT2 gene EXT2 protein female Female frameshift mutation Frameshift Mutation gene gene deletion gene frequency gene function gene identification gene insertion genetics genomic DNA hereditary multiple exostoses hereditary multiple exostosis heterozygosity human Humans image analysis infant male Male messenger RNA middle aged Middle Aged mutational analysis n acetylglucosaminyltransferase N-Acetylglucosaminyltransferases nonsense mediated mRNA decay pathogenesis pathology pedigree Pedigree peptides and proteins physical examination preschool child procedures RNA degradation Sanger sequencing sequence alignment single nucleotide polymorphism stop codon unclassified drug validation process whole exome sequencing Whole Exome Sequencing whole-exome sequencing young adult Young Adult
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Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole-exome sequencing

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