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9.Uluslararası Erciyes Tıbbi Genetik Kongresi, Kayseri, Turkey, 2 - 04 May 2024, (Unpublished)
Introduction
WAC related intellectual disability, known as DeSanto Shinawi syndrome (OMIM 616708 is an autosomal dominant disorder caused by pathogenic variants in the WW domain containing adapter with coiled coil ( gene, located on 10 p 12 1 This syndrome is characterized by global developmental delay,dysmorphic facial features, intellectual disability, and behavioral problems We present the clinical findings and genetic analysis results of a newborn female patient with DeSanto Shinawi syndrome
Methods and Results
A newborn female patient was referred to us due to congenital heart disease, hypotonia respiratory distress, neonatal convulsion, and dysmorphic face (deep seated eyes, bulbous nasal type, prominent ear) The patient was born via cesarean section at 34 weeks in a twin pregnancy, with her twin sibling showing no health issues Transfontanellar ultrasound revealed multiple corticothalamic cysts There was no consanguinity between the parents The father, aged 28 exhibited a similar dysmorphic facial phenotype, mild ID and congenital heart disease Since no pathogenic/likely pathogenic variant that could explain the clinic was detected in chromosome and microarray analyzes we detected a heterozygous likely pathogenic de novo c 920 5 delTTTAGinsTTAA variant in the WAC gene in the patient and his father in the CES analysis (Figure 1)
Discussion
DeSanto Shinawi Syndrome ( is an exceedingly rare genetic disorder with only a limited number of cases reported in the medical literature As far as we know this is the first DeSanto Shinawi Syndrome ( reported in Turkey Our case contributes to the current literature by emphasizing the importance of advanced genetic testing methods such as CES in rare diseases