Figure 1

Pedigrees, mutations and clinical data. (A) Pedigrees of Pakistani families segregating prelingual hearing loss and mutations of FGF3. The maximum LOD scores for these families are 4.26 [21], 2.5 [21] and 4.87, respectively. Individuals with less severe phenotypes are shown with grey shading. (B) Wild type and mutant alleles of FGF3 from unaffected and affected members of families PKDF295, PKDF887 and PKDF817. (C) ClustalW alignment of FGF3 amino acid residues 86-109 shows that Arginine residue at position 95 (p.R95, arrow) is conserved in a variety of species. The mutated amino acid residue in human FGF3 was numbered according to NM_005247.2 (cDNA) and NP_005238 (protein). (D) Pure tone audiometry results for three heterozygous carriers of p.R95W who show a mild to moderate degree of conductive hearing loss with air-bone conduction threshold gaps that range from 20 to 35 dB.