{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T15:22:57Z","timestamp":1784992977746,"version":"3.55.0"},"reference-count":58,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2022,11,7]],"date-time":"2022-11-07T00:00:00Z","timestamp":1667779200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Scientific and Technical National Research Council","award":["11220170100790CO"],"award-info":[{"award-number":["11220170100790CO"]}]},{"name":"Scientific and Technical National Research Council","award":["2437 OC-AR PICT2010-2824"],"award-info":[{"award-number":["2437 OC-AR PICT2010-2824"]}]},{"name":"Scientific and Technical National Research Council","award":["SAF2017-84646-R"],"award-info":[{"award-number":["SAF2017-84646-R"]}]},{"name":"Scientific and Technical National Research Council","award":["PID2020-116263RB-I00"],"award-info":[{"award-number":["PID2020-116263RB-I00"]}]},{"name":"Ministerio de Economia, Industria y Competividad","award":["11220170100790CO"],"award-info":[{"award-number":["11220170100790CO"]}]},{"name":"Ministerio de Economia, Industria y Competividad","award":["2437 OC-AR PICT2010-2824"],"award-info":[{"award-number":["2437 OC-AR PICT2010-2824"]}]},{"name":"Ministerio de Economia, Industria y Competividad","award":["SAF2017-84646-R"],"award-info":[{"award-number":["SAF2017-84646-R"]}]},{"name":"Ministerio de Economia, Industria y Competividad","award":["PID2020-116263RB-I00"],"award-info":[{"award-number":["PID2020-116263RB-I00"]}]},{"name":"Fondo Europeo de Desarrollo Regional","award":["11220170100790CO"],"award-info":[{"award-number":["11220170100790CO"]}]},{"name":"Fondo Europeo de Desarrollo Regional","award":["2437 OC-AR PICT2010-2824"],"award-info":[{"award-number":["2437 OC-AR PICT2010-2824"]}]},{"name":"Fondo Europeo de Desarrollo Regional","award":["SAF2017-84646-R"],"award-info":[{"award-number":["SAF2017-84646-R"]}]},{"name":"Fondo Europeo de Desarrollo Regional","award":["PID2020-116263RB-I00"],"award-info":[{"award-number":["PID2020-116263RB-I00"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Multiple Osteochondromatosis (MO, MIM 133700 &amp; 133701), an autosomal dominant O-glycosylation disorder (EXT1\/EXT2-CDG), can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature and pathogenic variants in two tumor suppressor genes, EXT1 and EXT2. In this work, we report a cross-sectional study including 35 index patients and 20 affected family members. Clinical phenotyping of all 55 affected cases was obtained, but genetic studies were performed only in 35 indexes. Of these, a total of 40% (n = 14) had a family history of MO. Clinical severity scores were class I in 34% (n:18), class II in 24.5% (n:13) and class III in 41.5% (n:22). Pathogenic variants were identified in 83% (29\/35) probands. We detected 18 (62%) in EXT1 and 11 (38%) in EXT2. Patients with EXT1 variants showed a height z-score of 1.03 SD lower than those with EXT2 variants and greater clinical severity (II\u2013III vs. I). Interestingly, three patients showed intellectual impairment, two patients showed a dual diagnosis, one Turner Syndrome and one hypochondroplasia. This study improves knowledge of MO, reporting new pathogenic variants and forwarding the worldwide collaboration necessary to promote the inclusion of patients into future biologically based therapeutics.<\/jats:p>","DOI":"10.3390\/genes13112063","type":"journal-article","created":{"date-parts":[[2022,11,8]],"date-time":"2022-11-08T07:00:42Z","timestamp":1667890842000},"page":"2063","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients"],"prefix":"10.3390","volume":"13","author":[{"given":"Silvia","family":"Caino","sequence":"first","affiliation":[{"name":"Servicio de Crecimiento y Desarrollo, Hospital de Pediatr\u00eda J.P, Garrahan, Buenos Aires C1245, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marisa Angelica","family":"Cubilla","sequence":"additional","affiliation":[{"name":"Centro de Estudio de las Metabolopat\u00edas Cong\u00e9nitas (CEMECO), Hospital de Ni\u00f1os de la Sant\u00edsima Trinidad, Facultad de Ciencias M\u00e9dicas, Universidad Nacional de C\u00f3rdoba, C\u00f3rdoba X5014AKN, Argentina"},{"name":"Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas (CONICET), C\u00f3rdoba X5000IND, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romina","family":"Alba","sequence":"additional","affiliation":[{"name":"Servicio de Crecimiento y Desarrollo, Hospital de Pediatr\u00eda J.P, Garrahan, Buenos Aires C1245, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Gabriela","family":"Obreg\u00f3n","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica, Hospital de Pediatr\u00eda J.P. Garrahan, Buenos Aires C1245, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3311-2220","authenticated-orcid":false,"given":"Virginia","family":"Fano","sequence":"additional","affiliation":[{"name":"Servicio de Crecimiento y Desarrollo, Hospital de Pediatr\u00eda J.P, Garrahan, Buenos Aires C1245, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abel","family":"G\u00f3mez","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica, Hospital de Pediatr\u00eda J.P. Garrahan, Buenos Aires C1245, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorena","family":"Zecchini","sequence":"additional","affiliation":[{"name":"Servicio de Ortopedia y Traumatolog\u00eda, Hospital de Ni\u00f1os de la Sant\u00edsima Trinidad, C\u00f3rdoba X5014AKN, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6324-4825","authenticated-orcid":false,"given":"Pablo","family":"Lapunzina","sequence":"additional","affiliation":[{"name":"Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, 28046 Madrid, Spain"},{"name":"ITHACA-European Reference Network (ERN-ITHACA), Hospital Universitario La Paz, 28046 Madrid, Spain"},{"name":"CIBERER, ISCIII, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Aza-Carmona","sequence":"additional","affiliation":[{"name":"Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, 28046 Madrid, Spain"},{"name":"CIBERER, ISCIII, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen E.","family":"Heath","sequence":"additional","affiliation":[{"name":"Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, 28046 Madrid, Spain"},{"name":"CIBERER, ISCIII, 28029 Madrid, Spain"},{"name":"Skeletal Dysplasia Multidisciplinary Unit (UMDE-ERN BOND), Hospital Universitario La Paz, 28046 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla Gabriela","family":"Asteggiano","sequence":"additional","affiliation":[{"name":"Centro de Estudio de las Metabolopat\u00edas Cong\u00e9nitas (CEMECO), Hospital de Ni\u00f1os de la Sant\u00edsima Trinidad, Facultad de Ciencias M\u00e9dicas, Universidad Nacional de C\u00f3rdoba, C\u00f3rdoba X5014AKN, Argentina"},{"name":"Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas (CONICET), C\u00f3rdoba X5000IND, Argentina"},{"name":"C\u00e1tedra Farmacolog\u00eda, Carrera Medicina, Facultad de Ciencias de la Salud, Universidad Cat\u00f3lica de C\u00f3rdoba, C\u00f3rdoba X5000IYG, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,11,7]]},"reference":[{"key":"ref_1","unstructured":"Freeze, H.H., Steet, R., Suzuki, T., Kinoshita, T., and Schnaar, R.L. 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