Figure 1.

Pedigree of the family and analyses of MNS1 in the consanguineous Chinese family. (a) The pedigree of the consanguineous Chinese family with inherited MNS1 pathogenic variant. The proband in these families is indicated as “P” plus a black arrow. A dot in the middle of the symbol indicates heterozygous carriers. Sanger sequencing confirmation of MNS1 variant c.603_604insG in this family; the unaffected parents and the proband's brother are heterozygous carriers of the variation of MNS1, c.603_604insG, whereas the proband is homozygous for the variation. (b) Homozygosity mapping of the proband. Homozygous regions with remarkable signal are indicated in red. The asterisk indicates the area where MNS1 is located. P: proband; MNS1: meiosis-specific nuclear structural 1.