title: Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis.
abstract: 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.
authors.affiliation: Laboratory of Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Grillo
authors.affiliation: Unit of Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
authors.forename: Donatella
authors.initials: D
authors.lastname: Greco
authors.affiliation: Unit of Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
authors.forename: Rosa
authors.initials: R
authors.lastname: Pettinato
authors.affiliation: Unit of Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
authors.forename: Emanuela
authors.initials: E
authors.lastname: Avola
authors.affiliation: Unit of Radiology, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
authors.forename: Nabor
authors.initials: N
authors.lastname: Potenza
authors.affiliation: Laboratory of Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Castiglia
authors.affiliation: Laboratory of Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Spalletta
authors.affiliation: Laboratory of Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
authors.forename: Silvestra
authors.initials: S
authors.lastname: Amata
authors.affiliation: Laboratory of Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Di Benedetto
authors.affiliation: Laboratory of Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Luciano
authors.affiliation: Unit of Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy. Electronic address: cromano@oasi.en.it.
authors.forename: Corrado
authors.initials: C
authors.lastname: Romano
authors.affiliation: Laboratory of Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy; Medical Genetics, University of Catania, Catania, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Fichera
mesh_terms: D002648:Child; D002880:Chromosomes, Human, Pair 11; D003398:Craniosynostoses / Q000235:genetics*; D051518:Fibroblast Growth Factor 3 / Q000235:genetics*; D051519:Fibroblast Growth Factor 4 / Q000235:genetics*; D018628:Gene Dosage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics; D012307:Risk Factors
chemical_list: C496444:FGF3 protein, human; C496445:FGF4 protein, human; D051518:Fibroblast Growth Factor 3; D051519:Fibroblast Growth Factor 4
keywords: 11q13.3 microduplication; 3D; <; Array-CGH; BAC; CGH; CT; DNA; ECG; EEG; EMG; Intellectual disability; MLPA; MRI; Microcephaly; OMIM; Online Mendelian Inheritance in Man; PCR; bacterial artificial chromosome; base pairs; below; bp; centimeters; cm; comparative genomic hybridization; cranial tomography; deoxyribonucleic acid; dup; duplication; electrocardiogram; electroencephalogram; electromyography; g; grams; kb; kg; kilobases; kilograms; long arm of a chromosome; magnetic resonance imaging; polymerase chain reaction; q; three dimensional