Fig. 1

Family pedigrees and genetic annotations of identified mutations. a Pedigree of family A. Included participants are indicated by asterisk. b Pedigree of family B. Included participants are indicated by asterisk. c–f Sequence chromatograms of identified mutations, including OFD1 c.358A>G (c), C8ORF37 c.555G>A (d), TULP1 c.1255C>T (e), and RP1 c.2285_2289delTAAAT (f). g Orthologous protein sequence alignment of TULP1 from human (H. sapiens), chimpanzees (P. troglodytes), dogs (C. lupus), cows (B. taurus), rats (M. musculus), chickens (G. gallus), zebrafish (D. rerio), fruit flies (D. melanogaster), and worms (C. elegans). Conserved residues are shaded. The mutated residue 419 is boxed and indicated. h, i Crystal structural analysis of the wild type (h) and mutant (i) TULP1 protein. Hydrogen bonds between residue 419 and residues V488 and S534 were eliminated due to the substitution from arginine to tryptophan. j Conservational analysis of residues TULP1 R419, N463, V488 and S534 between TULP1 and TUB proteins