Farahani Mohadese, Jalali Amir, Ebrahimi Mobina, Kazemi Hossein
Department of Biology, Faculty of Science, Arak University, Arak, 384817758, Iran.
Department of Occupational Therapy, School of Rehabilitation, Arak University of Medical Sciences, Arak, Iran.
Mol Biol Rep. 2025 Aug 18;52(1):834. doi: 10.1007/s11033-025-10933-1.
Xia-Gibbs syndrome (XGS) is a rare, autosomal dominant genetic disorder characterized by a broad spectrum of neurological, motor, and developmental symptoms. This study presents the first reported case of XGS in Iran involving an 18-year-old girl with diverse clinical manifestations, including developmental delay, motor disorders, delayed puberty, and behavioral disturbances. Genetic analysis identified a de novo nonsense mutation in the AHDC1 gene (c.2062 C > T, p.(Arg688Ter)), resulting in a truncated and non-functional protein, which correlates with the patient's symptoms.
This case underscores the importance of early and accurate diagnosis of XGS and highlights the need for increased awareness among healthcare professionals, particularly in rare genetic disorders. Reporting such cases is crucial for enhancing understanding of the disease mechanisms and improving patient management.
夏-吉布斯综合征（XGS）是一种罕见的常染色体显性遗传病，其特征为广泛的神经、运动和发育症状。本研究报告了伊朗首例XGS病例，患者为一名18岁女孩，具有多种临床表现，包括发育迟缓、运动障碍、青春期延迟和行为障碍。基因分析确定AHDC1基因存在一个新发的无义突变（c.2062 C>T，p.(Arg688Ter)），导致蛋白质截短且无功能，这与患者的症状相关。
该病例强调了早期准确诊断XGS的重要性，并突出了医疗保健专业人员提高认识的必要性，尤其是在罕见遗传病方面。报告此类病例对于增进对疾病机制的理解和改善患者管理至关重要。
