Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Department of Anesthesiology, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos 1102-2801, Lebanon.
Genes (Basel). 2023 Jul 28;14(8):1546. doi: 10.3390/genes14081546.
Intellectual disability (ID) is a prevalent neurodevelopmental disorder characterized by limitations in intellectual functioning and adaptive behavior. While the causes of ID are still largely unknown, it is believed to result from a combination of environmental exposures and genetic abnormalities. Recent advancements in genomic studies and clinical genetic testing have identified numerous genes associated with neurodevelopmental disorders (NDDs), including ID. One such gene is , which plays a role in chromosome alignment and has been linked to a specific type of NDD called CHAMP1 disease. This report presents the case of a 21-year-old Lebanese female patient with a de novo mutation in . In addition to ID and NDD, the patient exhibited various clinical features such as impaired language, dysmorphic features, macrocephaly, thoracic hyperkyphosis, decreased pain sensation, and metabolic syndrome. These findings expand the understanding of the clinical spectrum associated with mutations and highlight the importance of comprehensive follow-up for improved prognosis. Overall, this case contributes to the knowledge of CHAMP1-related NDDs by describing additional clinical features associated with a mutation. The findings underscore the need for accurate diagnosis, thorough follow-up, and personalized care for individuals with mutations to optimize their prognosis.
智力残疾（ID）是一种常见的神经发育障碍，其特征是智力功能和适应行为受限。虽然 ID 的病因在很大程度上仍不清楚，但据信是环境暴露和遗传异常共同作用的结果。最近在基因组研究和临床基因检测方面的进展，已经确定了许多与神经发育障碍（NDD）相关的基因，包括 ID。其中一个基因是 ，它在染色体排列中发挥作用，与一种称为 CHAMP1 疾病的特定类型的 NDD 有关。本报告介绍了一例 21 岁的黎巴嫩女性患者，其在 中存在新生突变。除了 ID 和 NDD，该患者还表现出多种临床特征，如语言障碍、畸形特征、大头畸形、胸椎后凸、痛觉减退和代谢综合征。这些发现扩展了与 突变相关的临床谱的认识，并强调了全面随访以改善预后的重要性。总的来说，通过描述与 突变相关的其他临床特征，本病例为 CHAMP1 相关 NDD 的相关知识做出了贡献。这些发现强调了对携带 突变的个体进行准确诊断、全面随访和个性化护理的必要性，以优化其预后。
