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Informative Article | Medicine | Colombia | Volume 12 Issue 12, December 2023 | Rating: 4.7 / 10
3M Syndrome, Unprecedented Variants in the CUL7 Gene: In Barranquilla - Colombia: Case Report
William Quessep - Mendoza [4] | Angelica Mendoza - Caballero | Ronil Mercado | Maria Maestre | Jorge Ordonez [2]
Abstract: Miller, MacKusich, Malvaux, name 3M Syndrome, an autosomal recessive disorder expressed mainly by pathogenic variants in 3 genes (CUL7, OBS 1, CCDC8), characterized by growth retardation that can occur from prenatal stages to adult life associated with clinical characteristics such as osteoarticular alterations, craniofacial dysmorphisms, intellectual capacity and normal endocrine function, the diagnosis initially clinical and always associated with low height in the patients who consult, with findings in the genetic profile that show pathogenic variants in genes, CUL7, OBS 1, CCDC8, with the CUL7 gene being the one that reports the most cases. There is no specific treatment for these patients and management is carried out according to associated alterations. We probably describe a unique case of 3M syndrome worldwide found in Barranquilla. Colombia
Keywords: 3M syndrome, CUL7 gene mutation, Phenotype, Recombinant growth hormone, ClinVar
Edition: Volume 12 Issue 12, December 2023,
Pages: 1921 - 1924