Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis
| Autor: | Nabor Potenza, Marco Fichera, Corrado Romano, S. Amata, Lucia Grillo, Angela Spalletta, Donatella Greco, Emanuela Avola, Daniela Di Benedetto, Daniela Luciano, Rosa Pettinato, Lucia Castiglia |
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| Rok vydání: | 2014 |
| Předmět: |
Male
Genetics Microcephaly Chromosomes Human Pair 11 Fibroblast Growth Factor 3 Fibroblast Growth Factor 4 Gene Dosage Chromosome General Medicine Biology medicine.disease Gene dosage Craniosynostosis Craniosynostoses Risk Factors Intellectual Disability Gene duplication medicine OMIM : Online Mendelian Inheritance in Man Humans Multiplex ligation-dependent probe amplification Risk factor Child |
| Zdroj: | Gene. 534:435-439 |
| ISSN: | 0378-1119 |
| DOI: | 10.1016/j.gene.2013.09.120 |
| Popis: | Interstitial duplications involving chromosome 11q have rarely been reported in the literature and mainly represent large, cytogenetically detectable rearrangements associated with a wide and variable spectrum of neurodevelopmental disorders. We report on a patient affected by intellectual disability, craniosynostosis, and microcephaly. Array-CGH analysis identified a de novo 290 kb interstitial duplication of chromosome 11q13.3 including the FGF3 and FGF4 genes. Clinical comparison of our patient with those previously reported with overlapping 11q duplications allows us to define the minimal duplicated region associated with craniosynostosis and strongly supports the hypothesis that the constitutional increased dosage of the FGF3 and FGF4 genes is a risk factor for craniosynostosis in humans. |
| Databáze: | OpenAIRE |
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