Universidad de Guadalajara. Biblioteca Pública del Estado de Jalisco «Juan José Arreola»

• Título: Could a patient with SMC1A duplication be classified as a human cohesinopathy?
• Autor: Baquero Montoya, Carolina; Gil Rodríguez, María Concepción; Teresa Rodrigo, María Esperanza; Hernández Marcos, María; Bueno Lozano, Gloria; Bueno Martínez, Inés; Remeseiro, Silvia; Fernández Hernández, R.; Bassecourt Serra, M.; Rodríguez de Alba, Marta; Queralt, Ethel; Losada, A; Puisac, Beatriz; Ramos, Feliciano J.; Pié, Juan
• Publicación original: Clinical Genetics, 2014
• Descripción física: PDF
• Nota general:
  • Colombia
• Notas de reproducción original: Digitalización realizada por la Biblioteca Virtual del Banco de la República (Colombia)
• Notas:
  • Resumen: Abstract: The disorders caused by mutations in genes encoding subunits and accessory proteins of cohesin complex are collectively termed as cohesinopathies. The best known cohesinopathy is Cornelia de Lange Syndrome (CdLS), which is a multisystem developmental disorder characterized by facial dysmorphism, limb malformations, growth and cognitive impairment. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), are responsible for ∼70% of CdLS cases. We describe a 16-year-old boy with facial dysmorphism, growth retardation, intellectual disability, hirsutism and small hands, who has a small Supernumerary Marker Chromosome (sSMC) present in mosaic form. sSMC is composed of two duplicated segments encompassing 17 genes including SMC1A gene, at the regions Xp11.22 and Xp11.21q11.1. Clinical comparison between our patient with a previously reported individual with a SMC1A duplication and four male carriers of similar sSMC reported in databases, suggest that they all share clinical features related to cohesinopathies. Although our patient does not have the classical CdLS craniofacial phenotype, he has pre and postnatal growth retardation, intellectual disability and mild musculoskeletal anomalies, features commonly seen in patients with cohesinopathies.
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  • Colfuturo
• Forma/género: texto
• Idioma: castellano
• Institución origen: Biblioteca Virtual del Banco de la República
• Encabezamiento de materia:
  • Cornelia de Lange Syndrome; CdLS; Human Cohesinopathy; Small Supernumerary Marker Chromosome; sSMC; SMC1A Duplication
  • Tecnología; Tecnología / Ciencias médicas Medicina; Tecnología / Ciencias médicas Medicina / Enfermedades

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