title: De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus.
abstract: BACKGROUND
  Van der Woude syndrome is the most common among syndromes which include cleft lip and/or cleft palate as one of the presentations. It is usually caused by mutations in the interferon regulatory factor 6 (IRF6) gene.
  
  
  METHODS
  We previously reported on a patient with suspected deletion of the IRF6 gene. Using the Affymetrix Human SNP 6.0 Array, the interstitial deletion has been confirmed and found to be approximately 2.327-2.334 Mb within the 1q32.2 region. Although several known genes were deleted, the patient has no other phenotype apart from the orofacial presentations typical of VWS. The same deletion was not present in either parent and his two siblings were also phenotypically normal.
  
  
  CONCLUSIONS
  Other than IRF6, the genes which are deleted in this patient appear to be insensitive to copy number and haploinsufficiency. We compared the deletion in this patient with another case which was also mapped by high resolution array but had additional phenotypic features.
authors.affiliation: KK Research Centre, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore 229899, Singapore ; Office of Clinical Sciences, Duke-NUS Graduate Medical School Singapore, 8 College Road, Singapore 169857, Singapore.
authors.forename: Ene-Choo
authors.initials: EC
authors.lastname: Tan
authors.affiliation: KK Research Centre, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore 229899, Singapore.
authors.forename: Eileen Cp
authors.initials: EC
authors.lastname: Lim
authors.affiliation: Department of Plastic, Reconstructive & Aesthetic Surgery, Singapore General Hospital, Outram Road, Singapore 169608, Singapore.
authors.forename: Seng-Teik
authors.initials: ST
authors.lastname: Lee
keywords: 1q32; IRF6 gene; Microdeletion; Orofacial clefting; SNP array; Syndromic clefting; Van der Woude syndrome
references.citation: Nat Genet. 2002 Oct;32(2):285-9
references.pmid: 12219090
references.citation: Am J Med Genet. 1987 Feb;26(2):437-43
references.pmid: 3812594
references.citation: Hum Mol Genet. 2009 Feb 1;18(3):535-45
references.pmid: 19036739
references.citation: Cytogenet Genome Res. 2011;134(2):83-7
references.pmid: 21447942
references.citation: J Med Genet. 2008 Feb;45(2):81-6
references.pmid: 17873121
references.citation: East Afr Med J. 2001 Feb;78(2):111-2
references.pmid: 11682943
references.citation: Am J Med Genet. 1999 May 21;84(2):145-50
references.pmid: 10323740
references.citation: N Engl J Med. 2004 Aug 19;351(8):769-80
references.pmid: 15317890
references.citation: Hum Mol Genet. 1994 Apr;3(4):575-8
references.pmid: 8069301
references.citation: J Hum Genet. 2003;48(12):622-628
references.pmid: 14618417
references.citation: Int J Mol Med. 2008 Jun;21(6):747-51
references.pmid: 18506368