Pedigrees of 2 families affected with MHA/FTNS. All heterozygous individuals present macrothrombocytopenia. Deafness and cataracts are only present in some individuals carrying the Asp1424Asn mutation. Shading in the upper right quartile indicates macrothrombocytopenia. Shading in the upper left quartile indicates deafness, and shading in the lower right quartile indicates cataract (see “Patients”). Diagonal lines indicate deceased individuals.