Figure 1. .

Phenotype and genotype cosegregation in family MA-1. Squares represent males, circles represent females, blackened symbols represent clinically affected individuals who presented with severe anemia (I-1 and II-7 depend on small steroid doses, and II-2 has been in steroid-induced remission since childhood and presented with webbed neck), open symbols represent unaffected individuals, and line-shaded symbols represent clinically unaffected individuals with abnormal laboratory tests, such as elevated eADA and HbF. a, Phenotype of family MA-1. n = Normal range. b, Genotype of family MA-1. Nonsense mutation c.316C→T (Gln106STOP) was found in clinically affected individuals I-1, II-2, and II-7 and in two apparently healthy individuals, III-2 and III-3, with elevated eADA and HbF. wt = Wild type.