Molecular analysis of SCO1 mutations. A, Sequence analysis of cDNA of patient II.1. B, SSCP screening for the paternally inherited frameshift mutation in the family. C, Screening of the maternally inherited mutation (C520T) in exon 3 by XbaI restriction analysis. D, Sequence alignment of the SCO1 protein from patient II.1, from controls, and from nonhuman sources, as well as of human and yeast SCO2 proteins. F = father; M = mother; C = control; ND = nondigested control; MW = molecular weight.