کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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3963852 | 1600670 | 2016 | 7 صفحه PDF | دانلود رایگان |
ObjectiveTo determine the nosogenetic factors of a 46,XY female with primary amenorrhea and unilateral mixed germ cell tumor.MethodsEight genes associated with 46,XY gonadal dysgenesis were detected in the patient and her parents by target region captured-next generation sequencing.ResultsAn 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 patient’s parents, which indicated that it is a de novo mutation.ConclusionA 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).
Journal: Journal of Reproduction and Contraception - Volume 27, Issue 2, June 2016, Pages 82–88