| dc.creator | Caino, Silvia | |
| dc.creator | Cubilla, Marisa Angelica | |
| dc.creator | Alba, Romina | |
| dc.creator | Obregón, María Gabriela | |
| dc.creator | Fano, Virginia | |
| dc.creator | Gómez, Abel | |
| dc.creator | Zecchini, Lorena del Valle | |
| dc.creator | Lapunzina, Pablo | |
| dc.creator | Aza Carmona, Miriam | |
| dc.creator | Heath, Karen E. | |
| dc.creator | Asteggiano, Carla Gabriela | |
| dc.date | 2022-11-07 | |
| dc.date.accessioned | 2023-04-10T17:50:28Z | |
| dc.date.available | 2023-04-10T17:50:28Z | |
| dc.identifier | http://pa.bibdigital.ucc.edu.ar/3684/1/A_Caino_Cubilla_Alba_Obreg%C3%B3n_Fano_G%C3%B3mez_Zecchini_Lapunzina_AzaCarmona_Heath_Asteggiano.pdf | |
| dc.identifier.uri | https://hdl.handle.net/20.500.12032/86136 | |
| dc.description | Multiple Osteochondromatosis (MO, MIM 133700 & 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–III 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. | |
| dc.description | Fil: Caino, Silvia. Hospital de Pediatría J.P, Garrahan. Servicio de Crecimiento y Desarrollo,; Argentina | |
| dc.description | Fil: Cubilla, Marisa Angelica. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas; Argentina | |
| dc.description | Fil: Alba, Romina. Hospital de Pediatría J.P, Garrahan. Servicio de Crecimiento y Desarrollo,; Argentina | |
| dc.description | Fil: Obregón, María Gabriela. Hospital de Pediatría J.P, Garrahan; Argentina | |
| dc.description | Fil: Fano, Virginia. Hospital de Pediatría J.P, Garrahan. Servicio de Crecimiento y Desarrollo,; Argentina | |
| dc.description | Fil: Gómez, Abel. Hospital de Pediatría J.P, Garrahan; Argentina | |
| dc.description | Fil: Zecchini, Lorena del Valle. Hospital de Niños de la Santísima Trinidad; Argentina | |
| dc.description | Fil: Lapunzina, Pablo. Hospital Universitario La Paz; España | |
| dc.description | Fil: Aza Carmona, Miriam. Hospital Universitario La Paz; España | |
| dc.description | Fil: Heath, Karen E. Hospital Universitario La Paz; España | |
| dc.description | Fil: Asteggiano, Carla Gabriela. Universidad Católica de Córdoba. Facultad de Ciencias de la Salud; Argentina | |
| dc.format | application/pdf | |
| dc.language | spa | |
| dc.relation | http://pa.bibdigital.ucc.edu.ar/3684/ | |
| dc.relation | https://www.mdpi.com/2073-4425/13/11/2063 | |
| dc.relation | info:eu-repo/semantics/altIdentifier/doi/https://doi.org/10.3390/genes13112063 | |
| dc.rights | info:eu-repo/semantics/openAccess | |
| dc.rights | https://creativecommons.org/licenses/by/4.0/deed.es | |
| dc.source | Caino, Silvia ORCID: https://orcid.org/0000-0002-2602-0793 <https://orcid.org/0000-0002-2602-0793>, Cubilla, Marisa Angelica ORCID: https://orcid.org/0000-0002-9862-8933 <https://orcid.org/0000-0002-9862-8933>, Alba, Romina ORCID: https://orcid.org/0000-0003-1324-8972 <https://orcid.org/0000-0003-1324-8972>, Obregón, María Gabriela ORCID: https://orcid.org/0000-0001-7129-8009 <https://orcid.org/0000-0001-7129-8009>, Fano, Virginia ORCID: https://orcid.org/0000-0003-3311-2220 <https://orcid.org/0000-0003-3311-2220>, Gómez, Abel, Zecchini, Lorena del Valle ORCID: https://orcid.org/0000-0002-2284-3266 <https://orcid.org/0000-0002-2284-3266>, Lapunzina, Pablo ORCID: https://orcid.org/0000-0002-6324-4825 <https://orcid.org/0000-0002-6324-4825>, Aza Carmona, Miriam ORCID: https://orcid.org/0000-0003-4448-9541 <https://orcid.org/0000-0003-4448-9541>, Heath, Karen E. ORCID: https://orcid.org/0000-0002-5816-7044 <https://orcid.org/0000-0002-5816-7044> and Asteggiano, Carla Gabriela ORCID: https://orcid.org/0000-0003-4713-2775 <https://orcid.org/0000-0003-4713-2775> (2022) Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients. Genes (13). | |
| dc.subject | R Medicina (General) | |
| dc.title | Clinical and Genetic Analysis of Multiple Osteochondromas in
a Cohort of Argentine Patients | |
| dc.type | info:eu-repo/semantics/article | |
| dc.type | info:ar-repo/semantics/artículo | |
| dc.type | info:eu-repo/semantics/acceptedVersion | |
