Șerban Rebecca-Cristiana, Mituț-Velișcu Andreea-Mădălina, Costache Andrei, Cima Luminița-Nicoleta, Niculescu Carmen, Moroșanu Aritina, Riza Anca-Lelia, Streață Ioana
Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.
Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.
Diagnostics (Basel). 2025 Apr 24;15(9):1076. doi: 10.3390/diagnostics15091076.
: Previously reported gene-related cohesinopathies describe a range of clinical features, typically including intellectual disability (ID), facial dysmorphisms, and limb anomalies. : We present the case of an 8-year-old girl with main findings including ID, central precocious puberty (CPP), and bone fragility. Panel genetic testing revealed a pathogenic variant, NM_005862.3:c.2116del p.(Asp706Ilefs*15), which can only partially explain the clinical phenotype. Reports of -related cohesinopathies, including ours, have consistently described developmental and intellectual disabilities. In our case, the etiology of CPP and bone fragility remains unexplained. We discuss the challenges and limitations of current molecular tools in assessing cases with overlapping, apparently unlinked phenotypes, while speculating whether the common occurrence could be explained by instead. : The clinical spectrum of cohesinopathies is still poorly understood. Complex phenotypes with apparently unrelated clinical features warrant further careful investigation and illustrate the challenges of molecular diagnosis.
先前报道的与基因相关的凝聚素病描述了一系列临床特征，通常包括智力残疾（ID）、面部畸形和肢体异常。我们报告了一名8岁女孩的病例，其主要表现包括智力残疾、中枢性性早熟（CPP）和骨质脆弱。基因检测小组发现了一个致病变体，NM_005862.3:c.2116del p.(Asp706Ilefs*15)，该变体只能部分解释临床表型。包括我们的病例在内，与凝聚素病相关的报道一直描述了发育和智力残疾。在我们的病例中，CPP和骨质脆弱的病因仍无法解释。我们讨论了当前分子工具在评估具有重叠、明显不相关表型的病例时所面临的挑战和局限性，同时推测这种常见情况是否可以用其他原因来解释。凝聚素病的临床谱仍知之甚少。具有明显不相关临床特征的复杂表型值得进一步仔细研究，并说明了分子诊断的挑战。
