Deciphering an isolated lung phenotype of NKX2-1 frameshift pathogenic variant.

ABSTRACT:

Background

to perform a functional analysis of a new NK2 homeobox 1 (NKX2-1) variant (c.85_86del denominated NKX2-1^DEL) identified in a family presenting with isolated respiratory disease, in comparison to another frameshift variant (c.254dup denominated NKX2-1^DUP) identified in a subject with classical brain-lung-thyroid syndrome.

Methods

pathogenic variants were introduced into the pcDNA3-1(+)-wt-TTF1 plasmid. The proteins obtained were analyzed by western blot assay. Subcellular localization was assessed by confocal microscopy in A549 and Nthy cells. Transactivation of SFTPA, SFTPB, SFTPC, and ABCA3 promoters was assessed in A549 cells. Thyroglobulin promoter activity was measured with the paired box gene 8 (PAX8) c

SUBMITTER: Delestrain C 

PROVIDER: S-EPMC9888430 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature