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Somatic mosaicism in a Cornelia de Lange patient with NIPBL mutation identified by different Next Generation Sequencing approaches

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Año de publicación 2014
Idioma Inglés
Publicado por Clinical Genetics

Descripción: Abstract: Cornelia de Lange Syndrome (CdLS) is an autosomal dominant (NIPBL, SMC3 and RAD21) or X-linked (SMC1A and HDAC8) disorder, characterized by distinctive craniofacial appearance, growth retardation, intellectual disability and limb anomalies. Its clinical presentation can be extremely variable. Here we report on a girl with classical CdLS phenotype, growth retardation, intellectual disability and gastroesophageal reflux disease, who is mosaic for the c.6647A>C mutation in the NIPBL gene. While this mutation was undetected by standard Sanger sequencing, it was identified by subsequent exome and panel sequencing approaches. Allele quantification by pyrosequencing showed the presence of the mutation in about 10%, 23.5% and 46.5% of DNA samples from peripheral blood leukocytes, buccal epithelial cells and fibroblasts, respectively. NIPBL mutations in a mosaic state are a frequent cause of CdLS, but clinical diagnosis of these patients can be challenging. In our case, the panel enriched sequencing as well as the exome sequencing clearly demonstrated to be very sensitive tools for mosaic mutation detection.
Citación recomendada (normas APA)
: Carolina; Gil-Rodríguez Baquero Montoya, "Somatic mosaicism in a Cornelia de Lange patient with NIPBL mutation identified by different Next Generation Sequencing approaches", Colombia:Clinical Genetics, 2014. Consultado en línea en la Biblioteca Digital de Bogotá (https://www.bibliotecadigitaldebogota.gov.co/resources/3711644/), el día 2025-08-13.

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- Medicina
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Fuente Biblioteca Virtual Banco de la República
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Año de publicación 2014
Formato PDF
Cobertura Colombia

Somatic mosaicism in a Cornelia de Lange patient with NIPBL mutation identified by different Next Generation Sequencing approaches

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Somatic mosaicism in a Cornelia de Lange patient with NIPBL mutation identified by different Next Generation Sequencing approaches

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