title: Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.
abstract: We report on a patient with developmental delay and several facial characteristics reminiscent of Wolf-Hirschhorn syndrome, who carries a terminal 4p16.3 deletion of minimally 1.691 Mb and maximally 1.698 Mb. This deletion contains the FGFRL1 gene, but does not include the WHSC1 gene. Given its expression pattern and its involvement in bone and cartilage formation during embryonic development, the FGFRL1 gene represents a plausible candidate gene for part of the facial characteristics of Wolf-Hirshhorn syndrome in 4p16.3 deletion patients.
authors.affiliation: Department of Medical Genetics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. Hengbers@umcutrecht.nl
authors.forename: Hannelie
authors.initials: H
authors.lastname: Engbers
authors.forename: Jasper J
authors.initials: JJ
authors.lastname: van der Smagt
authors.forename: Ruben
authors.initials: R
authors.lastname: van 't Slot
authors.forename: Joris R
authors.initials: JR
authors.lastname: Vermeesch
authors.forename: Ron
authors.initials: R
authors.lastname: Hochstenbach
authors.forename: Martin
authors.initials: M
authors.lastname: Poot
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D004200:Diseases in Twins / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D011495:Histone-Lysine N-Methyltransferase / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D051500:Receptor, Fibroblast Growth Factor, Type 5 / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics; D054877:Wolf-Hirschhorn Syndrome / Q000235:genetics*
chemical_list: C417531:FGFRL1 protein, human; D051500:Receptor, Fibroblast Growth Factor, Type 5; D012097:Repressor Proteins; D011495:Histone-Lysine N-Methyltransferase; C419586:NSD2 protein, human