Figure 3.

Pedigree demonstrating NEHI and lung disease in association with an NKX2.1 mutation. The proband (arrow) was diagnosed with NEHI based upon lung biopsy performed in infancy. Multiple other family members, including the proband’s mother, had nonspecific pulmonary symptoms and failure to thrive as infants but have either resolved their pulmonary disease or improved significantly as they have aged. The proband and other family members (gray) are heterozygous for a missense mutation in codon 191 that is predicted to result in the substitution of leucine for arginine. All family members with a history of lung disease carry the mutation; three others (not shown) who are heterozygous were not known to have lung disease as infants but their pulmonary status has not been formally evaluated. See Figure 1 legend for expansion of abbreviation.