Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.
Zayed Al-ZayedRoua A Al-RijjalLamya Al-GhofailiHuda A BinEssaRajeev PantAnwar AlrabiahThamer Al-HussainanMinjing ZouBrian F MeyerYufei ShiPublished in: Orphanet journal of rare diseases (2021)
EXT1 and EXT2 mutations contribute significantly to the pathogenesis of HME in the Saudi population. In contrast to high mutation rate in EXT 1 (65%) and low mutation rate in EXT2 (25%) in other populations, the frequency of EXT2 mutations are much higher (41%) and comparable to that of EXT1 among Saudi patients. De novo mutations are also common and the six novel EXT1/EXT2 mutations further expands the mutation spectrum of HME.