Details

Autor(en) / Beteiligte

• Tan, Ene-Choo
• Lim, Eileen Cp
• Lee, Seng-Teik

Titel

De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus

Ist Teil von

• Molecular cytogenetics, 2013-08, Vol.6 (1), p.31-31

Ort / Verlag

England: BioMed Central Ltd

Erscheinungsjahr

2013

Quelle

Springer Nature - Complete Springer Journals

Beschreibungen/Notizen

• 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. 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. 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.