Identification and Functional Characterization of a Novel Mutation in the <i>NKX2-1</i> Gene: Comparison with the Data in the Literature

Abstract

We describe a novel NKX2-1 mutation and demonstrate that haploinsufficiency may not be the only explanation for BTLS. Our results indicate that NKX2-1 activity is also finely regulated in a tissue-specific manner, and additional studies are required to better understand the complexities of genotype-phenotype correlations in the NKX2-1 deficiency syndrome.