Título:
Exome Sequencing Reveals Biallelic Mutations in MBTPS1 Gene in a Girl with a Very Rare Skeletal Dysplasia
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Autor:
Raggio, Víctor
Rodríguez, Soledad
Feder, Sandra
Gueçaimburú, Rosario
Spangenberg, Lucía
Rodríguez, Soledad
Feder, Sandra
Gueçaimburú, Rosario
Spangenberg, Lucía
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Tipo de documento:
Artículo
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Palabras clave:
Diagnostic odyssey
Massive sequencing
Medical genomics
Molecular genetics
Osseous dysplasias
Rare diseases
Massive sequencing
Medical genomics
Molecular genetics
Osseous dysplasias
Rare diseases
Descriptores:
GENÓMICA
BIOLOGÍA MOLECULAR
GENÉTICA
ENFERMEDADES RARAS
ACROCEFALOSINDACTILIA
ENFERMEDADES ÓSEAS
GENES
MUTACIÓN
BIOLOGÍA MOLECULAR
GENÉTICA
ENFERMEDADES RARAS
ACROCEFALOSINDACTILIA
ENFERMEDADES ÓSEAS
GENES
MUTACIÓN
Año de publicación:
2024
Contenido:
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.
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MDPI
EN:
Diagnostics. 2024;14(3)
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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.
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Licencia Creative Commons Atribución (CC - By 4.0)
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| Ficheros | Descripción | Tamaño | Formato | ||
|---|---|---|---|---|---|
| Exome Sequencing Reveals Biallelic Mutations.pdf | Exome Sequencing Reveals Biallelic Mutations | 12.56 MB | Adobe PDF |