title: De novo interstitial deletion of 1q32.2-q32.3 including the entire IRF6 gene in a patient with oral cleft and other dysmorphic features.
abstract: BACKGROUND
  Microdeletion of the Van der Woude syndrome (VWS) critical region is a relatively rare event, and only a few cases have been reported in the medical literature. The extent of the deletion and the genotype-phenotype correlation are 2 crucial issues.
  
  
  RESULTS
  During analysis of the VWS critical region in 95 families with an isolated cleft of the lip with or without cleft palate, we found a de novo interstitial deletion of 1q32.2-q32.3 in a patient with cleft lip and other dysmorphic features. The present case showed new proximal and distal end breakpoints compared to those previously reported. The results of a short tandem repeat analysis was confirmed using high resolution array-based comparative genomic hybridization and showed an interstitial deletion of approximately 2.98 Mb which involved 25 genes, including the entire IRF6 gene. Direct sequencing of the non-deleted allele of the IRF6 gene did not show any mutation, which supports a haploinsufficiency mechanism of the IRF6 gene in the development of the oral cleft.
  
  
  CONCLUSIONS
  The present report adds to the collective knowledge that oral cleft is a major clinical feature of the 1q32.2-q32.3 deletion.
authors: Human Genome Center, Universiti Sains Malaysia, Kubang Kerian, Malaysia.
authors: I
authors: I
authors: Salahshourifar
authors: A S
authors: AS
authors: Halim
authors: W A W
authors: WA
authors: Sulaiman
authors: R
authors: R
authors: Ariffin
authors: N
authors: N
authors: Naili Muhamad Nor
authors: B A
authors: BA
authors: Zilfalil
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D003560:Cysts / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D050835:Interferon Regulatory Factors / Q000235:genetics*; D008046:Lip / Q000002:abnormalities; D047928:Premature Birth / Q000235:genetics
chemical_list: C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors