Pedigrees with autosomal dominant inheritance of CFEOM1. Black circles/squares indicate clinically affected individuals, and plus signs denote individuals who participated in this study. (A) Pedigrees harboring KIF21A mutations: pedigrees KR and TG harbor 2860C>T; pedigrees NH and NJ harbor 2861G>A; pedigree PG harbors 1067T>C. (B) Haplotype analysis of pedigree LX at the KIF21A locus. Genotyping data and schematic segregating haplotype bars for chromosome 12cen markers are shown below the symbol for each participant. A black bar indicates the haplotype passed from the affected father to his affected daughter. This haplotype is also inherited by three of the four unaffected siblings who participated in the study. A KIF21A mutation was not detected in this pedigree.
Chan et al. BMC Genetics 2007 8:26 doi:10.1186/1471-2156-8-26