Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients

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 a...

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Autores principales: Caino, Silvia, Cubilla, Marisa Angelica, Alba, Romina, Obregón, María Gabriela, Fano, Virginia, Gómez, Abel, Zecchini, Lorena del Valle, Lapunzina, Pablo, Aza Carmona, Miriam, Heath, Karen E., Asteggiano, Carla Gabriela
Formato: Artículo acceptedVersion
Lenguaje:Español
Publicado: 2022
Materias:
R Medicina (General)
Acceso en línea: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
Aporte de:
Producción Académica Universidad Católica de Córdoba (UCCor) de Universidad Católica de Córdoba
id I38-R144-3684
record_format dspace
institution Universidad Católica de Córdoba
institution_str I-38
repository_str R-144
collection Producción Académica Universidad Católica de Córdoba (UCCor)
language Español
orig_language_str_mv spa
topic R Medicina (General)
spellingShingle R Medicina (General)
Caino, Silvia
Cubilla, Marisa Angelica
Alba, Romina
Obregón, María Gabriela
Fano, Virginia
Gómez, Abel
Zecchini, Lorena del Valle
Lapunzina, Pablo
Aza Carmona, Miriam
Heath, Karen E.
Asteggiano, Carla Gabriela
Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients
topic_facet R Medicina (General)
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.
format Artículo
Artículo
acceptedVersion
author Caino, Silvia
Cubilla, Marisa Angelica
Alba, Romina
Obregón, María Gabriela
Fano, Virginia
Gómez, Abel
Zecchini, Lorena del Valle
Lapunzina, Pablo
Aza Carmona, Miriam
Heath, Karen E.
Asteggiano, Carla Gabriela
author_facet Caino, Silvia
Cubilla, Marisa Angelica
Alba, Romina
Obregón, María Gabriela
Fano, Virginia
Gómez, Abel
Zecchini, Lorena del Valle
Lapunzina, Pablo
Aza Carmona, Miriam
Heath, Karen E.
Asteggiano, Carla Gabriela
author_sort Caino, Silvia
title Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients
title_short Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients
title_full Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients
title_fullStr Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients
title_full_unstemmed Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients
title_sort clinical and genetic analysis of multiple osteochondromas in a cohort of argentine patients
publishDate 2022
url 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
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