[A de novo GJA1 mutation identified by whole-exome sequencing in a patient with oculodentodigital dysplasia].

To explore the genetic basis for a patient with oculodentodigital dysplasia.Genomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole-exome sequencing was carried out for the trio family. Suspected mutation was verified by Sanger sequencing.A de novo c.412G>A mutation of the GJA1 gene was identified in the patient, which was validated by Sanger sequencing.The c.412G>A mutation of the GJA1 gene probably underlies the disease in the patient.