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. 2019 Nov 14;10:1016. doi: 10.3389/fgene.2019.01016

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Copyright © 2019 Xiao, He, Zhang, Meng, Lu, Lin, Tan and Du

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Pedigree of the consanguineous Han Chinese family with POI-associated STAG3 variants. (A) Two second cousins (IV-1; IV-2) in generation four married each other and had two daughters (V-1; V-2) with POI. The number of siblings is written inside each symbol. The proband is marked with a black arrow. Filled symbols indicate other affected members. Open symbols indicate unaffected members. Heterozygous carriers are indicated with a dot in the middle of each symbol. Numbers are allotted to the family members whose DNA samples were used in this study. (B) Based on sequence chromatograms for STAG3 (NM_001282716: c.877_885del; c.891_893dupTGA) in this family, the unaffected parents (IV-1; IV-2) are heterozygous carriers of two variants of STAG3, whereas the two affected sisters (V-1; V-2) are homozygous. (C) Homozygosity mapping of the proband. Homozygous regions with a remarkable signal are indicated in red. The asterisk indicates the location of STAG3. (D) Cross-species alignment reveals strong evolutionary conservation at positions 293_295 and 297_298 in STAG3 (NP_036579.2). (E) The STAG3 protein consists of 1,225 amino acids, including a STAG domain and an ARM-type domain. The two variants discovered in this study are shown at the top of the figure, whereas previously reported variants are displayed at the bottom of the figure.