Figure 4: Mutation detection in the family and homozygosity mapping performed for patient I.1. (A) Pedigree of the family and electropherograms of a part of the FGF3 exon 1 showing a homozygous p.Met1Arg mutation in the two affected patients (II.1 and II.2) and a heterozygous p.Met1Arg mutation in the two unaffected parents (I.1 and I.2). (B) Schematic representation of the results of homozygosity mapping showing a homozygous region on chromosome 11 including FGF3 for one affected patient compared to 5 controls. Grey box: homozygous SNPs (AA or BB). White box : heterozygous SNPs (AB).