A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability

Abstract

Intellectual disability Speech delay Nonsyndromic mental retardation Case reportsTwo siblings, a man, aged 19 years and an 11.5-year-old girl who had been born to consanguineous parents presented with intellectual disability. The family had three more children who were healthy. In both siblings, prenatal history and delivery were uneventful. No postnatal infection, toxic exposure or significant head trauma was noted. Two cousins in the extended family also had intellectual disability; however, they were not available for evaluation.