Por favor, use este identificador para citar o enlazar este ítem: https://hdl.handle.net/20.500.12008/56021
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dc.contributor.author Autor Raggio, Víctor-
dc.contributor.author Autor Rodríguez, Soledad-
dc.contributor.author Autor Feder, Sandra-
dc.contributor.author Autor Gueçaimburú, Rosario-
dc.contributor.author Autor Spangenberg, Lucía-
dc.contributor.filiacion Filiación Raggio Víctor, Universidad de la República (Uruguay). Facultad de Medicina. Departamento de Genética-
dc.contributor.filiacion Filiación Rodríguez Soledad, Universidad de la República (Uruguay). Facultad de Medicina. Departamento de Genética-
dc.contributor.filiacion Filiación Feder Sandra, Laboratorio de Genética Clínica Genodiagnosis (Uruguay)-
dc.contributor.filiacion Filiación Gueçaimburú Rosario, Centro de Referencia Nacional de Defectos Congénitos y Enfermedades Raras (Uruguay); Hospital Británico (Uruguay)-
dc.contributor.filiacion Filiación Spangenberg Lucía, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Departamento Básico de Medicina; Institut Pasteur de Montevideo (Uruguay). Unidad de Bioinformática-
dc.date.accessioned Fecha ingreso 2026-07-13T16:21:09Z-
dc.date.available Fecha disponible 2026-07-13T16:21:09Z-
dc.date.issued Año de publicación 2024-
dc.description.abstract Resumen The Kondo-Fu type of spondyloepiphyseal dysplasia (SEDKF) is a rare skeletal dysplasia caused by homozygous or compound heterozygous mutations in the MBTPS1 gene. The MBTPS1 gene encodes a protein that is involved in the regulation of cholesterol and fatty acid metabolism. Mutations in MBTPS1 can lead to reduced levels of these lipids, which can have a number of effects on development, including skeletal anomalies, growth retardation, and elevated levels of blood lysosomal enzymes. This work reports the case of a 5-year-old girl with SEDKF. The patient had a severely short stature and a number of skeletal anomalies, including kyphosis, pectus carinatum, and reduced bone mineral density. She also had early onset cataracts and inguinal hernias. Genetic testing revealed two novel compound heterozygous variants in the MBTPS1 gene. These variants are predicted to disrupt the function of the MBTPS1 protein, which is consistent with the patient's clinical presentation. This case report adds to the growing body of evidence that mutations in the MBTPS1 gene are causal of SEDKF. We summarized the features of previous reported cases (with age ranges from 4 to 24 years) and identified that 80% had low stature, 70% low weight, 80% had bilateral cataracts and 70% showed Spondyloepiphyseal dysplasia on X-rays. The findings of this study suggest that SEDKF is a clinically heterogeneous disorder that can present with a variety of features. Further studies are needed to better understand the underlying mechanisms of SEDKF and to develop more effective treatments.es
dc.format.extent Extensión 11 p.es
dc.format.mimetype Formato application/pdfes
dc.identifier.citation Citación Raggio V, Rodríguez S, Feder S y otros. Exome Sequencing Reveals Biallelic Mutations in MBTPS1 Gene in a Girl with a Very Rare Skeletal Dysplasia. Diagnostics [en línea]. 2024;14(3). 11 p.es
dc.identifier.doi DOI 10.3390/diagnostics14030313-
dc.identifier.eissn e-ISSN 2075-4418-
dc.identifier.uri URI https://hdl.handle.net/20.500.12008/56021-
dc.language.iso Idioma enes
dc.publisher Editorial MDPIes
dc.relation.ispartof EN Diagnostics. 2024;14(3)es
dc.rights Derechos Las obras depositadas en el Repositorio se rigen por la Ordenanza de los Derechos de la Propiedad Intelectual de la Universidad de la República.(Res. Nº 91 de C.D.C. de 8/III/1994 – D.O. 7/IV/1994) y por la Ordenanza del Repositorio Abierto de la Universidad de la República (Res. Nº 16 de C.D.C. de 07/10/2014)es
dc.rights.licence Licencia Licencia Creative Commons Atribución (CC - By 4.0)es
dc.subject Palabras clave Diagnostic odysseyes
dc.subject Palabras clave Massive sequencinges
dc.subject Palabras clave Medical genomicses
dc.subject Palabras clave Molecular geneticses
dc.subject Palabras clave Osseous dysplasiases
dc.subject Palabras clave Rare diseaseses
dc.subject.other Descriptores GENÓMICAes
dc.subject.other Descriptores BIOLOGÍA MOLECULARes
dc.subject.other Descriptores GENÉTICAes
dc.subject.other Descriptores ENFERMEDADES RARASes
dc.subject.other Descriptores ACROCEFALOSINDACTILIAes
dc.subject.other Descriptores ENFERMEDADES ÓSEASes
dc.subject.other Descriptores GENESes
dc.subject.other Descriptores MUTACIÓNes
dc.title Título Exome Sequencing Reveals Biallelic Mutations in MBTPS1 Gene in a Girl with a Very Rare Skeletal Dysplasiaes
dc.type Tipo de documento Artículoes

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