Fig. 1

Pedigree and sequencing results of families 1–3. The pedigree showed core family members: square symbol represented males; circle symbol indicated females; Roman numerals represented generations; and Arabic numerals indicated the position of each individual within the family. A Pedigree and sequencing results of family 1. Sanger sequencing showed that the proband (II1) carried a hemizygous ANOS1 c.1063-2 A > T mutation, while the proband’s mother (I2) carried a heterozygous ANOS1 c.1063-2 A > T mutation. B Pedigree and sequencing results of family 2. NGS showed that the proband (II1) carried a hemizygous ANOS1 c.711 G > T mutation, while Sanger sequencing showed that the proband’s mother (I2) carried a heterozygous ANOS1 c.711 G > T mutation. C Pedigree and sequencing results of family 3. Sanger sequencing showed that the proband (II1) carried a hemizygous ANOS1 c.709 T > A mutation, the proband’s mother (I2) and sister (II2) carried a same heterozygous ANOS1 c.709 T > A mutation, and the proband’s nephew (III1) carried a hemizygote ANOS1 c.709 T > A mutation