Journal article
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not ollier disease or maffucci syndrome
ME Bowen, ED Boyden, IA Holm, B Campos-Xavier, L Bonafé, A Superti-Furga, S Ikegawa, V Cormier-Daire, JV Bovée, TC Pansuriya, SB de Sousa, R Savarirayan, E Andreucci, M Vikkula, L Garavelli, C Pottinger, T Ogino, A Sakai, BM Regazzoni, W Wuyts Show all
Plos Genetics | PUBLIC LIBRARY SCIENCE | Published : 2011
Abstract
Metachondromatosis (MC) is a rare, autosomal dominant, incompletely penetrant combined exostosis and enchondromatosis tumor syndrome. MC is clinically distinct from other multiple exostosis or multiple enchondromatosis syndromes and is unlinked to EXT1 and EXT2, the genes responsible for autosomal dominant multiple osteochondromas (MO). To identify a gene for MC, we performed linkage analysis with high-density SNP arrays in a single family, used a targeted array to capture exons and promoter sequences from the linked interval in 16 participants from 11 MC families, and sequenced the captured DNA using high-throughput parallel sequencing technologies. DNA capture and parallel sequencing ident..
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Awarded by UK Research and Innovation
Funding Acknowledgements
This work was supported by the Interuniversity Attraction Poles initiated by the Belgian Federal Science Policy, network 6/05; Concerted Research Actions - Convention No 07/12-005 of the Belgian French Community Ministry; the FRS-FNRS, Belgium; the National Institute of Health, Program Project P01 AR048564 (to MV); the Ministry of Education, Culture, Sports, and Science of Japan (Contract grant No. 20390408), Research on Child Health and Development (Contract grant No. 20-S-3), the Ministry of Health, Labor, and Welfare of Japan (Contract grant No. H22-nanchi-ippan-046) (to SI); The National Institutes of Health/National Institute for Arthritis and Musculoskeletal and Skin Diseases (LRP Award), Harvard Medical School Shore Foundation Award, and the Society for Pediatric Pathology (to KCK); and the Howard Hughes Medical Institute (to JGS and MLW). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.