Fig. 1

Pedigree and genetic analysis of the Chinese family. (a) Two family members in this pedigree were diagnosed with POI. The solid circle with an arrow indicates the proband. Solid circles indicate the affected family members. (b) Validation of the mutation by Sanger sequencing. The red arrow and gray frame indicate the mutation site (c.3470G > A) in I-1 and II-1 as double peaks and the lack of mutation in I-2 and II-2 as a single peak. (c) Original and altered gDNA and cDNA sequence snippets. The location of c.3470G>A is marked in red