Haploinsufficiency of NKX2-1 is likely to contribute to developmental delay involving 14q13 microdeletions.
Intractable Rare Dis Res
; 13(1): 36-41, 2024 Feb.
Article
in En
| MEDLINE
| ID: mdl-38404736
ABSTRACT
Nucleotide variations or deletions in the NK2 homeobox 1 gene (NKX2-1), located at 14q13.3, lead to symptoms associated with the brain, lungs, and thyroid, and the combination of these phenotypes is clinically recognized as the brain-lung-thyroid syndrome. Many types of nucleotide variants of NKX2-1 have been identified, and phenotypic variability has been reported. Chromosomal deletions involving NKX2-1 have also been reported; however, phenotypic differences between patients with nucleotide variants of NKX2-1 and patients with chromosomal deletions involving NKX2-1 have not been well established. Recently, we identified seven patients with 14q13 microdeletions involving the NKX2-1. Most patients exhibited developmental delay. This inquiry arises regarding the potential existence of haploinsufficiency effects beyond those attributed to NKX2-1 within the 14q13 microdeletion. However, a literature review has shown that developmental delay is not rare in patients with nucleotide alterations in NKX2-1. Rather, motor function impairment may have affected the total developmental assessment, and the haploinsufficiency of genes contiguous to NKX2-1 is unlikely to contribute to developmental delay.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Intractable Rare Dis Res
Year:
2024
Document type:
Article
Affiliation country:
Japan