Haploinsufficiency of is Likely to Contribute to Developmental Delay Involving 14q13 Microdeletions

Overview

Journal Intractable Rare Dis Res

Date 2024 Feb 26

PMID 38404736

Authors

Osamu Machida

Haruko Sakamoto

Keiko Shimojima Yamamoto

Yuiko Hasegawa

Satoi Nii

Hidenori Okada

Kazuki Nishikawa

Shin-Ichi Sumimoto

Eriko Nishi

Nobuhiko Okamoto

Toshiyuki Yamamoto

Affiliations

Soon will be listed here.

Abstract

Nucleotide variations or deletions in the NK2 homeobox 1 gene (), 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 have been identified, and phenotypic variability has been reported. Chromosomal deletions involving have also been reported; however, phenotypic differences between patients with nucleotide variants of and patients with chromosomal deletions involving have not been well established. Recently, we identified seven patients with 14q13 microdeletions involving the . Most patients exhibited developmental delay. This inquiry arises regarding the potential existence of haploinsufficiency effects beyond those attributed to within the 14q13 microdeletion. However, a literature review has shown that developmental delay is not rare in patients with nucleotide alterations in . Rather, motor function impairment may have affected the total developmental assessment, and the haploinsufficiency of genes contiguous to is unlikely to contribute to developmental delay.

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