Results of Array and Sequencing: a) SNP NSP 250K array (Affimetrix) of Chromosome 19 of individuals (MCP1-5 and MCP1-6). Blue and red areas indicate homozygous regions, while yellow areas indicate heterozygous regions. Patients share the same homozygous haplotype on chr. 19q12-q13.2, indicating an autozygous region. Borders are defined as the first heterozygous SNP above and under the homozygous locus. b) Sanger sequencing traces confirm the homozygous mutation, c.2527dupG, in all affected individuals and heterozygous mutations in the parents (underlined in black). Despite having the same microsatellite marker alleles as the affected, individual MCP1-3 is heterozygous for c.2527dupG.