Short Report
European Journal of Human Genetics (2009) 17, 129–132; doi:10.1038/ejhg.2008.168; published online 1 October 2008
Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions
Hannelie Engbers1, Jasper J van der Smagt1, Ruben van 't Slot1, Joris R Vermeesch2, Ron Hochstenbach1 and Martin Poot1
- 1Department of Medical Genetics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands
- 2Center for Human Genetics, University Hospital, Catholic University of Leuven, Leuven, Belgium
Correspondence: Dr H Engbers, Wilhemina Children's Hospital, University Medical Centre Utrecht, KC 03.063.0, Lundlaan 6, Utrecht 3584 EA, The Netherlands. Tel: +31 887 554 330; Fax: +31 887 555 350; E-mail: Hengbers@umcutrecht.nl
Received 19 March 2008; Revised 25 July 2008; Accepted 8 August 2008; Published online 1 October 2008.
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.
Keywords:
Wolf–Hirschhorn syndrome, 4p16.3 deletion, WHSC1 gene, FGFRL1 gene, developmental delay
