Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, Italy.
Genes (Basel). 2020 Jun 26;11(6):707. doi: 10.3390/genes11060707.
No data on interstitial microduplications of the 16q24.2q24.3 chromosome region are available in the medical literature and remain extraordinarily rare in public databases. Here, we describe a boy with a 16q24.2q24.3 microduplication at the Single Nucleotide Polymorphism (SNP)-array analysis spanning ~2.2 Mb and encompassing 38 genes. The patient showed mild-to-moderate intellectual disability, speech delay and mild dysmorphic features. In DECIPHER, we found six individuals carrying a "pure" overlapping microduplication. Although available data are very limited, genomic and phenotype comparison of our and previously annotated patients suggested a potential clinical relevance for 16q24.2q24.3 microduplication with a variable and not (yet) recognizable phenotype predominantly affecting cognition. Comparing the cytogenomic data of available individuals allowed us to delineate the smallest region of overlap involving 14 genes. Accordingly, we propose , , and as candidate genes for explaining the related neurodevelopmental manifestations shared by these patients. To the best of our knowledge, this is the first time that a clinical and molecular comparison among patients with overlapping 16q24.2q24.3 microduplication has been done. This study broadens our knowledge of the phenotypic consequences of 16q24.2q24.3 microduplication, providing supporting evidence of an emerging syndrome.
关于 16q24.2q24.3 染色体区域的间质微重复，医学文献中尚无数据，在公共数据库中也极为罕见。在这里，我们描述了一名男孩，他在单核苷酸多态性 (SNP) 微阵列分析中存在 16q24.2q24.3 微重复，该重复跨越约 2.2 Mb，包含 38 个基因。患者表现为轻度至中度智力残疾、言语延迟和轻度畸形特征。在 DECIPHER 中，我们发现了六名携带“纯”重叠微重复的个体。尽管可用数据非常有限，但对我们和以前注释的患者的基因组和表型比较表明，16q24.2q24.3 微重复具有潜在的临床意义，其表型具有变异性且尚未可识别，主要影响认知。比较可用个体的细胞遗传学数据，使我们能够划定涉及 14 个基因的最小重叠区域。因此，我们提出、和作为解释这些患者共享的神经发育表现的候选基因。据我们所知，这是首次对重叠 16q24.2q24.3 微重复患者进行临床和分子比较。这项研究拓宽了我们对 16q24.2q24.3 微重复表型后果的认识，为新兴综合征提供了支持证据。
