Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis.
Gene
; 534(2): 435-9, 2014 Jan 25.
Article
em En
| MEDLINE
| ID: mdl-24120895
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.
Palavras-chave
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
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Dosagem de Genes
/
Craniossinostoses
/
Fator 3 de Crescimento de Fibroblastos
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Fator 4 de Crescimento de Fibroblastos
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Child
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article