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Additional file 1: Table S1. Pathogenicity prediction of three missense variants and their classification according to the ACMG rules.

Additional file 1: Table S2. Primer sequences from PCR amplification for the exon and breakpoint junctions located in the upstream region of POU3F4.

Additional file 2: Fig. S2. Conservation analysis of variants located in the POU-specific domain and homeodomain of POU3F4. (a) Protein alignment of POU-specific domain across six species. The three residues (R205, V215 and L217) located in the POU-specific domain were highly conserved in these species. (b) Protein alignment of POU homeodomain across six species. The three residues (R282, K302 and V321) located in the POU homeodomain were also highly conserved in these species. (c) Structural simulation of p.Arg205del mutant protein. The 205 residues are marked in green (white arrows) and the difference in protein structures is clearly seen between mutant protein (MT) and wild-type (WT) protein.

Additional file 1: Fig. S1. Motherhood confirmation of three families with de novo variants. 14 genetic markers (D19S433, D5S818, D18S51, D6S1043, D3S1358, D16S539, CSF1PO, VWA, TPOX, Penta E, THO1, D12S391, D2S1338, and FGA) are used to identify paternity. (a) Family 09 with p.Trp57*. The relative chance of paternity (RCP) is 99.9999%. (b) Family 13 with p.Arg205del. The RCP is 99.9999%. (c) Family 14 with g.81807331_81887213del. The RCP is 99.9999%.

Additional file 1: Table S2. Primer sequences from PCR amplification for the exon and breakpoint junctions located in the upstream region of POU3F4.

Additional file 1: Table S1. Pathogenicity prediction of three missense variants and their classification according to the ACMG rules.