Novel SETBP1 mutation in a Chinese family with intellectual disability

Abstract

Intellectual disability (ID) is characterized by an IQ < 70, which implies below-average intellectual function and a lack of skills necessary for daily living; ID may occur due to multiple causes, such as metabolic, infectious, and chromosomal causes. ID affects approximately 1–3% of the population, but the cause can be identified in only 25% of clinical patients. In order to find the cause of genetic ID in a family, we performed whole exome sequencing and Sanger sequencing to confirm the presence of an SETBP1 mutation and real-time quantitative polymerase chain reaction to detect SETBP1 expression in the proband and normal controls. A novel mutation, c.942_943insGT (p.Asp316TrpfsTer28) in the SETBP1 gene was found. Further, we observed that SETBP1 expression in patients was only 20% that of normal controls (P < 0.05). In conclusion, we found a heterozygous mutation in SETBP1 associated with ID and provided further evidence for its genetic basis and support for clinical genetic diagnosis.