Fig. 1.

Pedigree of the family with distal HMN. Filled symbols indicate affected individuals. A question mark identifies individuals with “undetermined” phenotype. Below each individual, numbered alleles correspond to each of the microsatellite markers: D11S905 (57.4 cM), D11S4191 (64.9 cM), D11S987, (72.2 cM), and D11S1314 (78.75 cM). Marker order and positions are according to the Marshfield sex-averaged genetic map. A black bar indicates the shared haplotype. BSCL2 is located between D11S4191 and D11S987. A positive (plus signs) or negative (minus signs) sign indicate presence or absence of p.N88S BSCL2 mutation. The most likely (non-recombinant) haplotype for III:3 would be (5–3–5–3), indicating no linkage to the BSCL2 region. However, she was also carrying the p.N88S mutation. Several single and double recombinations are displayed