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. 2020 Aug 28;6(35):eaaz4796. doi: 10.1126/sciadv.aaz4796

Fig. 1. Identification of a homozygous ACTL7A mutation in two brothers with infertility.

Fig. 1

(A) Pedigree of a family with an inherited ACTL7A mutation. The open square and circles denoted the unaffected male and female family members, respectively. The filled squares denote the affected male members, and the double line indicates a consanguineous marriage. Individuals marked with an asterisk were investigated by WES. M, mutation; W, wild type. (B) The ACTL7A mutation was verified by Sanger sequencing. The homozygous ACTL7A mutation of both brothers (subjects II:1 and II:2) was inherited from heterozygous parental carriers (subjects I:1 and I:2). The dotted rectangle indicates the position of the mutation. (C) Location and conservation of the ACTL7A mutation. The conservation of the mutated amino acid is indicated by the alignment of this sequence with that of six mammalian species.