Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency
J. Clin. Invest. Heiko Krude, et al. 109:475 doi:10.1172/JCI14341 [Go to this article.]

Figure 1
Genotype of NKX2-1–deficient patients. The complete genomic structure of NKX2-1 gene is shown. Different transcription start sites have been described leading to 5′-alternative transcripts indicated by +1 in black, according to Hamdan et al. (25), and in gray, according to Ikeda et al. (26). Numbering of nucleotides are shown according to both references and have been used to indicate the mutations according to the most extended genomic sequence reported by Hamdan et al. (25). Numbering of aa residues are relative to the first residue of the DNA-binding HD to achieve the best comparison between mutations in different HDs containing transcription factors, as suggested by the terminology of vnd/NK2 gene mutations (13). Mutations are indicated as arrows. If possible mutations were confirmed by restriction enzyme analysis, as shown for patients 3, 4, and 5, parental samples were obtained for patient 2 (sequence data show normal results, not shown) and patient 3; ctr, control DNA; nc, non-cut DNA; M, mother; F, father; P, patient.