Machida Osamu, Sakamoto Haruko, Yamamoto Keiko Shimojima, Hasegawa Yuiko, Nii Satoi, Okada Hidenori, Nishikawa Kazuki, Sumimoto Shin-Ichi, Nishi Eriko, Okamoto Nobuhiko, Yamamoto Toshiyuki
Division of Gene Medicine, Graduate School of Medicine, Tokyo Women's Medical University, Tokyo, Japan.
Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
Intractable Rare Dis Res. 2024 Feb;13(1):36-41. doi: 10.5582/irdr.2023.01119.
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.
位于14q13.3的NK2同源盒1基因（）中的核苷酸变异或缺失会导致与脑、肺和甲状腺相关的症状，这些表型的组合在临床上被认定为脑-肺-甲状腺综合征。已鉴定出该基因的多种核苷酸变体类型，并报道了表型变异性。也有涉及该基因的染色体缺失的报道；然而，该基因核苷酸变体患者与涉及该基因的染色体缺失患者之间的表型差异尚未明确确立。最近，我们鉴定出7例涉及该基因的14q13微缺失患者。大多数患者表现出发育迟缓。关于14q13微缺失范围内除该基因外潜在的单倍剂量不足效应的存在产生了这一疑问。然而，文献综述表明，该基因突变的患者中发育迟缓并不罕见。相反，运动功能损害可能影响了整体发育评估，且该基因相邻基因的单倍剂量不足不太可能导致发育迟缓。
