RRML - The utility of molecular genetic techniques in craniosynostosis cases associated with intellectual disability
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Nr. 26(4)/2018 DOI:10.2478/rrlm-2018-0033
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The utility of molecular genetic techniques in craniosynostosis cases associated with intellectual disability

Alina Bogliş, Florin Tripon, Claudia Bănescu

Correspondence should be addressed to: Alina Bogliş

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: craniosynostosis, FGFR3, Pro250Arg mutation, MLPA analysis, Sanger sequencing

Received: 29.7.2018
Accepted: 18.9.2018
Published: 8.10.2018

 
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How to cite
Bogliş A, Tripon F, Bănescu C. The utility of molecular genetic techniques in craniosynostosis cases associated with intellectual disability. Rev Romana Med Lab. 2018;26(4):471-7. DOI:10.2478/rrlm-2018-0033