Fig. 1

Pedigrees and genetic findings in families with osteopetrosis. Pedigrees of ten Pakistani families (OP1–OP10) with osteopetrosis that segregate as an autosomal recessive trait. Top bold text represent the name of each family and their corresponding sequence variants in osteopetrosis genes shown below. Filled circles or squares indicate affected females and males, respectively. Double lines indicate consanguinity. Individuals with DNA available are indicated with digits and their genotype for corresponding sequence variant is shown below. WT, Wild type; M1–M8, mutation 1- mutation 8. Representative chromatograms showing the pedigree specific sequence variant from a healthy/control wild type (top) and affected homozygous individual (bottom). Position of the sequence variant is indicated with red arrow or red rectangle