Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions

Hannelie Engbers; Jasper J van der Smagt; Ruben van 't Slot; Joris R Vermeesch; Ron Hochstenbach; Martin Poot

doi:10.1038/ejhg.2008.168

Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions

Eur J Hum Genet. 2009 Jan;17(1):129-32. doi: 10.1038/ejhg.2008.168. Epub 2008 Oct 1.

Authors

Hannelie Engbers¹, Jasper J van der Smagt, Ruben van 't Slot, Joris R Vermeesch, Ron Hochstenbach, Martin Poot

Affiliation

¹ Department of Medical Genetics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. [email protected]

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.

Publication types

Case Reports

MeSH terms

Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 4 / genetics*
Diseases in Twins / genetics*
Face / abnormalities*
Female
Histone-Lysine N-Methyltransferase / genetics
Humans
In Situ Hybridization, Fluorescence
Infant
Phenotype
Polymorphism, Single Nucleotide
Receptor, Fibroblast Growth Factor, Type 5 / genetics*
Repressor Proteins / genetics
Wolf-Hirschhorn Syndrome / genetics*

Substances

FGFRL1 protein, human
Receptor, Fibroblast Growth Factor, Type 5
Repressor Proteins
Histone-Lysine N-Methyltransferase
NSD2 protein, human