NKX2.1 run-on mutation associated to familial brain-lung-thyroid syndrome

Abstract

FIGURE 1

Pedigree and mutant NKX2.1 analysis. (A) Pedigree plot; the solid figure represents all affected family members (III/1, II/2; II/3 and I/2). (B) Sanger sequencing showing the NKX2.1 mutation (c.1204dupT) in the proband (III/1) and his mother (II/2), but not in the father (II/1). (C) Representation of the nucleotide duplication effects. (D) HeLa cells were transfected with WT or mutant (Mut) NKX2.1‐expressing vectors, or empty vector (ev) as control, alone or together with Luciferase (Luc) reporter vectors (C5‐Luc, Tg‐Luc and Tpo‐Luc). Luc activity is reported as folds of promoter activity in the presence of ev. (E) qRT‐PCR analysis of NKX2.1 WT and Mut mRNA levels. (F) Western blot showing NKX2.1 WT and Mut proteins, with GAPDH as loading control. Data are shown as means ± SD of three experiments. *p < 0.05, **p < 0.01; ***p < 0.001 [Colour figure can be viewed at wileyonlinelibrary.com]