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Fig. 1 | Journal of Ovarian Research

Fig. 1

From: Whole-exome sequencing in patients with premature ovarian insufficiency: early detection and early intervention

Fig. 1

Sanger sequencing validated the POI-related variants. a Sanger sequencing validated the compound heterozygous variants of DNAH6 c.2407C > A and c.8680G > A in POI-1. Her unaffected mother carries the heterozygous variant c.2407C > A, and her father carries the heterozygous variant c.8680G > A. b Sanger sequencing confirmed that POI-3 and her father both carry the heterozygous variant c.1724A > T in BNC1. c Two heterozygous variants, c.3100G > A and c.1006 + 1G > T, of HFM1 were confirmed in POI-6. Heterozygous variant c.3100G > A was inherited from her, mother and heterozygous variant c.1006 + 1G > T was inherited from her father. d Sanger sequencing confirmed that both POI-7 and her father carry the heterozygous variant c.1397G > A in EIF2B4. e Sanger sequencing confirmed that POI-8 and her father carry the heterozygous variant c.676G > A in FOXL2. f Sanger sequencing confirmed that POI-3 and her father carry the heterozygous variant c.2488G > A in MCM9

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