Fig. 1

Identification of Bi-allelic variants in ARMC2. A Pedigrees of two families carrying ARMC2 variants. All the affected individuals have bi-allelic variants with a recessive inheritance mode. P1 carries compound heterozygous variants of ARMC2 derived from his parental heterozygous carriers. P2 has homozygous variants in ARMC2. Sanger sequencing results are shown below the pedigrees. The deleted region in the Sanger sequencing chromatogram for M1 is highlighted with a red box, and the position of each variant for M2 and M3 is indicated by a red arrow. B Schematic representation of the functional domains of ARMC2 and the locations of ARMC2 variants identified in this study. Arrows (red) and dotted lines (blue, red and black) show the positions of novel ARMC2 variants identified in the present study. Sequence alignments show that the amino acid affected by the M2 mutation is highly conserved across different species. The blue boxes indicate 12 ARM repeat domains as described by the Uniprot server. Abbreviations: M1, mutation 1; M2, mutation 2; M3, mutation 3; WT, wild type