1. bookVolumen 26 (2018): Edición 4 (October 2018)
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Revista
eISSN
2284-5623
Primera edición
08 Aug 2013
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4 veces al año
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access type Acceso abierto

The utility of molecular genetic techniques in craniosynostosis cases associated with intellectual disability

Publicado en línea: 29 Oct 2018
Volumen & Edición: Volumen 26 (2018) - Edición 4 (October 2018)
Páginas: 471 - 477
Recibido: 29 Jul 2018
Aceptado: 18 Sep 2018
Detalles de la revista
License
Formato
Revista
eISSN
2284-5623
Primera edición
08 Aug 2013
Calendario de la edición
4 veces al año
Idiomas
Inglés
Abstract

Molecular genetic testing in craniosynostosis leads to the detection of the mutations in the genes encoding fibroblast growth factor receptors (FGFR), providing information about the etiology of the genetic disorder. Muenke syndrome is produced by p.Pro250Arg mutation in FGFR3 gene with evidence of variable expressivity, representing 8% of the syndromic craniosynostoses.

Here, we present the identification of a p.Pro250Arg pathogenic mutation (c.749C>G) in the FGFR3 gene using Multiplex Ligation-dependent Probes Amplification (MLPA) analysis in conjunction with Sanger sequencing in a patient with craniosynostosis and mild intellectual disability. The MLPA analysis detected a reduced signal of the probe, at the site of the c.749C>G mutation, defined by the presence of one allele of C749>G mutation in the FGFR3 gene, exon 7. Sanger sequencing was performed for confirmation and identified heterozygous p.Pro250Arg pathogenic variant (c.749C>G) in exon 7 of the FGFR3.

In conclusion, we assessed the validity and clinical utility of the combined molecular genetic techniques, MLPA analysis, and Sanger sequencing, for craniosynostosis and intellectual disability, improving not only the diagnostic testing but also the genetic counseling and management of the disorder.

Keywords

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