title: Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth.
abstract: We report a male patient with developmental delay carrying an interstitial 4p16.3 deletion of 287 kb, disclosed by oligo array-CGH and inherited from his father with a similar but milder phenotype. This deletion is distal to the Wolf-Hirschhorn syndrome critical regions, but includes the FGFRL1 gene proposed to be a plausible candidate for part of the craniofacial characteristics of Wolf-Hirschhorn syndrome patients. However, the proband lacks the typical facial appearance of the syndrome, but exhibits overgrowth, dysfunction of temporomandibular articulation and a bicuspid aortic valve. Given the pattern of expression of the fibroblast growth factor receptor-like 1 and its involvement in bone and cartilage formation as well as in heart valve morphogenesis, we discuss the impact of its haploinsufficiency in the phenotype.
authors.affiliation: Cytogenetics and Genomics Laboratory, Faculdade de Medicina da Universidade de Coimbra, Pólo Ciências da Saúde, 3000-548 Coimbra, Portugal ; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal ; CIMAGO - Centro de Investigação em Meio Ambiente, Genética e Oncobiologia, Faculdade de Medicina da Universidade de Coimbra, Coimbra, Portugal.
authors.forename: Eunice
authors.initials: E
authors.lastname: Matoso
authors.affiliation: Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
authors.forename: Fabiana
authors.initials: F
authors.lastname: Ramos
authors.affiliation: Cytogenetics and Genomics Laboratory, Faculdade de Medicina da Universidade de Coimbra, Pólo Ciências da Saúde, 3000-548 Coimbra, Portugal.
authors.forename: José
authors.initials: J
authors.lastname: Ferrão
authors.affiliation: Cytogenetics and Genomics Laboratory, Faculdade de Medicina da Universidade de Coimbra, Pólo Ciências da Saúde, 3000-548 Coimbra, Portugal.
authors.forename: Luís M
authors.initials: LM
authors.lastname: Pires
authors.affiliation: Cytogenetics and Genomics Laboratory, Faculdade de Medicina da Universidade de Coimbra, Pólo Ciências da Saúde, 3000-548 Coimbra, Portugal.
authors.forename: Alexandra
authors.initials: A
authors.lastname: Mascarenhas
authors.affiliation: Cytogenetics and Genomics Laboratory, Faculdade de Medicina da Universidade de Coimbra, Pólo Ciências da Saúde, 3000-548 Coimbra, Portugal ; CIMAGO - Centro de Investigação em Meio Ambiente, Genética e Oncobiologia, Faculdade de Medicina da Universidade de Coimbra, Coimbra, Portugal.
authors.forename: Joana B
authors.initials: JB
authors.lastname: Melo
authors.affiliation: Cytogenetics and Genomics Laboratory, Faculdade de Medicina da Universidade de Coimbra, Pólo Ciências da Saúde, 3000-548 Coimbra, Portugal ; CIMAGO - Centro de Investigação em Meio Ambiente, Genética e Oncobiologia, Faculdade de Medicina da Universidade de Coimbra, Coimbra, Portugal.
authors.forename: Isabel M
authors.initials: IM
authors.lastname: Carreira
keywords: 4p16.3 deletion; Cartilage formation; Developmental delay; FGFRL1 gene; Language impairment