Abstract
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.
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Schedule a callMore From: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
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