Mowat Wılson Sendromlu Hastalarda Klinik Değerlendirme ve ZEB2 Gen Mutasyon/Delesyon Analizi

Abstract

Mowat-Wilson syndrome is an intellectual disability syndrome associated with distinctive facial features, microcephaly, epilepsy, variable spectrum of congenital anomalies, including Hirschsprung disease, agenesis of the corpus callosum, genitourinary abnormalities, and congenital heart disease. The prevalance of Mowat-Wilson syndrome is currently unknown but it seems probably underdiagnosed. Mowat-Wilson syndrome is caused by de novo dominant mutations or deletions in ZEB2 gene which localised at 2q22. To date, more than 110 mutations/deletions have been reported in patients with a typical phenotype, but there is no study in Turkish patients. We evaluated the detailed clinical features of Mowat-Wilson syndrome patients whom where diagnosed in our clinic and for whom molecular DNA analyses were performed. In this work we describe clinical findings and sequencing analysis results of 10 Mowat-Wilson syndrome patients. ZEB2 gene mutations were found in 5 patients. Three of them were nonsense and 2 of them were frameshift mutations. Three mutations were localized in exon 8, and 2 mutations were novel mutations which were not described before.