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dc.creatorCaino, Silvia
dc.creatorCubilla, Marisa Angelica
dc.creatorAlba, Romina
dc.creatorObregón, María Gabriela
dc.creatorFano, Virginia
dc.creatorGómez, Abel
dc.creatorZecchini, Lorena del Valle
dc.creatorLapunzina, Pablo
dc.creatorAza Carmona, Miriam
dc.creatorHeath, Karen E.
dc.creatorAsteggiano, Carla Gabriela
dc.date2022-11-07
dc.date.accessioned2023-04-10T17:50:28Z
dc.date.available2023-04-10T17:50:28Z
dc.identifierhttp://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.urihttps://hdl.handle.net/20.500.12032/86136
dc.descriptionMultiple 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.descriptionFil: Caino, Silvia. Hospital de Pediatría J.P, Garrahan. Servicio de Crecimiento y Desarrollo,; Argentina
dc.descriptionFil: Cubilla, Marisa Angelica. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas; Argentina
dc.descriptionFil: Alba, Romina. Hospital de Pediatría J.P, Garrahan. Servicio de Crecimiento y Desarrollo,; Argentina
dc.descriptionFil: Obregón, María Gabriela. Hospital de Pediatría J.P, Garrahan; Argentina
dc.descriptionFil: Fano, Virginia. Hospital de Pediatría J.P, Garrahan. Servicio de Crecimiento y Desarrollo,; Argentina
dc.descriptionFil: Gómez, Abel. Hospital de Pediatría J.P, Garrahan; Argentina
dc.descriptionFil: Zecchini, Lorena del Valle. Hospital de Niños de la Santísima Trinidad; Argentina
dc.descriptionFil: Lapunzina, Pablo. Hospital Universitario La Paz; España
dc.descriptionFil: Aza Carmona, Miriam. Hospital Universitario La Paz; España
dc.descriptionFil: Heath, Karen E. Hospital Universitario La Paz; España
dc.descriptionFil: Asteggiano, Carla Gabriela. Universidad Católica de Córdoba. Facultad de Ciencias de la Salud; Argentina
dc.formatapplication/pdf
dc.languagespa
dc.relationhttp://pa.bibdigital.ucc.edu.ar/3684/
dc.relationhttps://www.mdpi.com/2073-4425/13/11/2063
dc.relationinfo:eu-repo/semantics/altIdentifier/doi/https://doi.org/10.3390/genes13112063
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rightshttps://creativecommons.org/licenses/by/4.0/deed.es
dc.sourceCaino, 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.subjectR Medicina (General)
dc.titleClinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:ar-repo/semantics/artículo
dc.typeinfo:eu-repo/semantics/acceptedVersion


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