A novel mutation in the SRY gene of a Chinese 46,XY female patient with unilateral mixed germ cell tumor

Objective To determine the nosogenetic factors of a 46,XY female with primary amenorrhea and unilateral mixed germ cell tumor. Methods Eight genes associated with 46,XY gonadal dysgenesis were detected in the patient and her parents by target region captured-next generation sequencing. Results An insertion of a single nucleotide (adenine) at the coding site 230 (c.230_231insA) located in the high mobility group (HMG) domain of SRY was revealed, which led to a truncated protein (p.Lys77fsX27). This mutation was at position 2655414 of the Y chromosome, supported with 127 unique mapped reads, however, this mutation was not found in the in-house dataset of 1 092 controls. Additionally, none of the candidate gene was detected in the pat ient’ s parents, which indicated that it is a de novo mutation. Conclusion A novel SRY sporadic mutation due to a single nucleotide insertion at position 230 (c.230_231insA) was identified as the cause of the disease in this patient. Target region captured-next generation sequencing was found to be an effective method for the molecular genetic testing of 46,XY complete gonadal dysgenesis (46,XY CGD).