[Intellectual disability due to heterozygous c.40C>T variant of TRIP12 gene in a patient].

Objective To explore the genetic basis for a patient with intellectual disability. Methods Whole exome sequencing and Sanger sequencing were carried out for the patient. The result was verified in her family. Results DNA sequencing revealed that the patient has carried a heterozygous nonsense c.40C>T (p.Arg14X) variant of the TRIP12 gene, which was de novo in origin. The variant was unrecorded in the Human Gene Mutation Database. Based on the American College of Medical Genetics and Genomics standards and guidelines, the variant was predicted to be pathogenic (PVS1+ PS2+ PP3). Conclusion The patient was diagnosed with autosomal dominant intellectual disability due to heterozygous c.40C>T variant of the TRIP12 gene.