Temple syndrome (TS) and Kagami-Ogata syndrome (KOS) are imprinting disorders caused by absence or overexpression of genes within a single imprinted cluster on human chromosome 14q32. TS most frequently arises from maternal UPD14 or epimutations/deletions on the paternal chromosome, whereas KOS most frequently arises from paternal UPD14 or epimutations/deletions on the maternal chromosome. In this review, we describe the clinical symptoms and genetic/epigenetic features of this imprinted region. The locus encompasses paternally expressed protein-coding genes (DLK1, RTL1 and DIO3) and maternally expressed lncRNAs (MEG3/GTL2, RTL1as and MEG8), as well as numerous miRNAs and snoRNAs. Control of expression is complex, with three differentially methylated regions regulating germline, placental and tissue-specific transcription. The strong conserved synteny between mouse chromosome 12aF1 and human chromosome 14q32 has enabled the use of mouse models to elucidate imprinting mechanisms and decipher the contribution of genes to the symptoms of TS and KOS. In this review, we describe relevant mouse models and highlight their value to better inform treatment options for long-term management of TS and KOS patients.

中文翻译：

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Temple 综合征和 Kagami-Ogata 综合征：临床表现、基因型、模型和机制。

Temple 综合征 (TS) 和 Kagami-Ogata 综合征 (KOS) 是由人类染色体 14q32.5 上单个印迹簇中基因缺失或过度表达引起的印迹障碍。TS 最常由母本 UPD14 或父本染色体上的表观突变/缺失引起，而 KOS 最常由父本 UPD14 或母本染色体上的表观突变/缺失引起。在这篇综述中，我们描述了这个印记区域的临床症状和遗传/表观遗传特征。该基因座包括父本表达的蛋白质编码基因（DLK1、RTL1和DIO3）和母本表达的 lncRNA（MEG3 / GTL2、RTL1as和MEG8）)，以及大量的 miRNA 和 snoRNA。表达的控制是复杂的，三个差异甲基化区域调节生殖系、胎盘和组织特异性转录。小鼠染色体 12aF1 和人类染色体 14q32 之间的强保守同线性使得能够使用小鼠模型来阐明印记机制并破译基因对 TS 和 KOS 症状的贡献。在这篇综述中，我们描述了相关的小鼠模型并强调了它们的价值，以更好地为 TS 和 KOS 患者的长期管理提供治疗方案。