Fig. 2

The ACH family pedigree and DNA sequence analysis: (a) Pedigree of a non-consanguineous Pakistani family where ACH is segregating as dominant trait. Three affected individuals (II-3, III-1, III-2) and three phenotypically healthy individuals (II-1, II-2, II-4) were analysed. b Sanger sequencing of FGFR3 gene revealed a c.1138 G > A heterozygous mutation in affected individuals while homozygous wild-type allele (G/G) in phenotypically healthy individuals. Arrow indicates the site of mutation. c PCR-RFLP analysis; an electrophoretic banding pattern of SfcI digestion revealed homozygous status for all healthy individuals while heterozygous condition observed in affected individuals