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.

Case presentation

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

SUBMITTER: Tan EC 

PROVIDER: S-EPMC3751720 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature