Table 3. Phenotypic characteristics and status of PITX2 mutation of the affected pedigree members.

Subject information			Phenotype		Genotype
Identity	Gender	Age (years)	Cardiac defects	Extracardiac defects	PITX2 mutation
I-1	M	50 a	ECD	OD, MH, IH	NA
II-1	M	31	ECD, RAA, MVC	OD, MH, IH	+/–
II-5	M	26	ECD, RAA, MVC	OD, MH, IH, UH	+/–
III-3	F	1	ECD, TGA	OD, MH, IH, UH	+/–

M, male; F, female; ECD, endocardial cushion defect; MVC, mitral valve cleft; RAA, right aortic arch; TGA, transposition of the great arteries; OD, oligodontia; MH, maxillary hypoplasia; IH, iris hypoplasia; UH, umbilical hernia; NA, not available; +/–, heterozygote.

^aAge at death.