In the present study, we screened a non-consanguineous Pakistani family with ACH and identified a highly recurrent heterozygous c.1138 G > A mutation of FGFR3. The single nucleotide substitution not only replaces glycine with arginine at codon position 380 (p.G380R) but also generates a unique restriction site for SfcI endonuclease. The gene discussed is FGFR3; the disease is achondroplasia.