[Genetic analysis of a case with Pitt-Hopkins syndrome due to variant of TCF4 gene].

OBJECTIVE

To explore the genetic basis of a patient presenting with dysmorphism, intellectual disability, psychomotor delay and hypoplasia of corpus callosum by using next generation sequencing.

METHODS

Genomic DNA was extracted from peripheral blood samples of the patient and his family members and subjected to exome sequencing. Suspected variants were verified with Sanger sequencing.

RESULTS

The patient was found to carry a heterozygous c.1357delAinsGGA variant in exon 11 of the TCF4 gene, which was verified as de novo by Sanger sequencing. The variant may result in a truncated protein and affect its function.

CONCLUSION

The heterozygous c.1357delAinsGGA variant the TCF4 gene probably underlies the disease in the proband.