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. 2019 Sep 30;129(11):4724–4738. doi: 10.1172/JCI127565

Figure 1. Compound heterozygous mutations in FOXN1 identified in 2 patients.

Figure 1

(A and B) Pt. 1 and Pt. 2 were identified from 2 independent and unrelated families. (C) Domain structure of FOXN1, with the 2 domains characterized to date: a DNA-binding region in the middle of the protein and a transactivation domain near the COOH terminus. Three FOXN1 autosomal-recessive mutations previously reported in patients with nude/SCID phenotypes are listed in red. Two patients, Pt. 1 and Pt. 2, presented with compound heterozygous mutations in FOXN1 at distinct sites, which are indicated above the exon assembly. (D and E) The DNA sequence mutations in FOXN1 and the corresponding effects on the amino acid sequence are shown for Pt. 1 (D) and Pt. 2 (E). The amino acid changes resulting from the various FOXN1 mutations are illustrated.