Figure 1

point mutations. 1A: chromatogram of the 401T>C mutation (L134P), from a carrier, obtained with Chromas 2.3. The nucleotide change resulting from the mutation is shown on the chromatogram. 1B: pedigree of the whole family with its three branches: solid squares are affected people, dotted circles are molecularly proven carriers and hollow squares and circles are unaffected people. Here, I2 and II 1, 2 and 3 are carriers, III1 and 3 are affected. The mutation was previously described in II3 and III3 [12]. 1C: sequence alignment of OA1 between different species: MOUSE: Mus musculus, HUMAN: Homo sapiens, XENTR: Xenopus tropicalis, XENLA: Xenopus laevis, BRARE: Danio rerio, ANOGA: Anopheles gambiae. The arrows in the alignment show the amino acid affected by the mutation. 1D: chromatogram of the 853A->T mutation (R285X), from an affected individual. 1E: chromatogram of the 241G>T mutation (G81V), from an affected individual. 1F: pedigree of the family affected by G81V. 1G: sequence alignment around G81. 1H: chromatogram of the 348C>G mutation (C116W), from a carrier. 1I: pedigree of the family affected by C116W. 1J: sequence alignment around C116. 1K: chromatogram of the 497C>A mutation (T166N), from an affected individual. 1L: pedigree of the family affected by T166N. 1M: sequence alignment around T166.