Fig. 3

Genetic findings in four families and conservative analysis of a novel missense variant. A Pedigrees of the families with causative variants and the corresponding Sanger sequencing results of a heterozygous variant in the proband and his/her first-degree non-affected relative. Squares represent males, circles represent females, arrows indicate the proband, open symbols represent unaffected individuals, solid symbols represent affected individuals, ± represents heterozygous variant, and + / + represents wildtype. B Alignment of LRP5 homologous protein sequences from 26 species, using human LRP5 as a reference, reveals a remarkable conservation of the tryptophan residue at position 691 across these species. C The phylogenetic trees represent the evolutionary relationships of various species