A family-analysis-based search for genes susceptible to mono-, oligo- and polygenic disorders

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We tried to isolate or identify disease-related genes by genomic-medicine methods using families with monogenic, oligogenic or polygenic disorders. During a five-year period of study, we identified the gene determining human earwax type, gene responsible for a congenital cataract, and those candidate for familial Japan fever, split hands and feet, and congenital absence of nails. We mapped gene loci for primary palmar hyperhidrosis, familial blepharoptosis, cleft soft palate, familial arteriovenous malformation, paroxysmal kinesigenic choreoathetosis, and Dupuytren contracture. We also identified a novel mutation in a family with familial atrial septal defect by a candidate gene analysis. However, although chromosomal translocation breakpoints were analyzed in patients with Kabuki syndrome, congenital arhinia and type 2 diabetes mellitus, any causative genes were found.