Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses

作者：Cammarata Scalisi Francisco^*; Cozar Monica; Grinberg Daniel; Balcells Susana; Asteggiano Carla G; Gustavo Martinez Domenech E; Bracho Ana; Sanchez Yanira; Stock Frances; Delgado Luengo Wilmer; Zara Chirinos Carmen; Antonio Chacin Jose

来源：Archivos Argentinos de Pediatria, 2015, 113(2): E109-E112.

DOI：10.5546/aap.2015.e109

• hereditary multiple exostoses
• EXT1/EXT2-CDG

Hereditary forms of multiple exostoses, now called EXT1/EXT2-CDG within Congenital Disorders of Glycosylation, are the most common benign bone tumors in humans and clinical description consists of the formation of several cartilage-capped bone tumors, usually benign and localized in the juxta-epiphyseal region of long bones, although wide body dissemination in severe cases is not uncommon. Onset of the disease is variable ranging from 2-3 years up to 13-15 years with an estimated incidence ranging from 1/18 000 to 1/50 000 cases in European countries. We present a double mutant alleles in the EXT1 gene not previously reported in a teenager and her family with hereditary multiple exostoses.

• 出版日期2015-4