![]() ![]() The novel c.660delG frameshift mutation in the EXT2 gene extends the etiological understanding of MO and may provide an effective reference for genetic counseling and prenatal diagnosis in this family. The missing residues contain the exostosin and glycosyltransferase family 64 domains, which are critical for the function of EXT2. The production of a defective EXT2 protein, lacking 450 C‑terminal amino acid residues is predicted to be caused by the c.660delG mutation, located within the exostosin domain of EXT2. A novel frameshift mutation in exon 3 of EXT2 (c.660delG) was detected. Polymerase chain reaction amplification, followed by DNA sequencing of the complete EXT1 and EXT2 coding regions, were conducted in a family with MO (n=5). In the present study, the genetic causes of the disease were investigated. ![]() The majority of mutations associated with MO occur in the exostosin glycosyltransferase genes (EXT)1 or EXT2. However, the underlying mechanism of MO at a molecular level requires further investigation. Multiple osteochondromas (MO) is an autosomal inherited disease that is characterized by benign bone tumors.
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