20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis

► Molecular diagnostic for EXT1-EXT2 gene mutations was applied to 90 HME patients. ► Sixty-seven EXT1-EXT2 gene mutations were identified, in which twenty-one were novel. ► In-vitro assay functionally tested the pathogenicity of 3 EXT1 gene splicing variants.