|
چکیده
|
Background Xia-Gibbs syndrome (XGS) is a rare, autosomal dominant genetic disorder characterized by a broad spectrum of neurological, motor, and developmental symptoms. Case summary 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. Conclusion 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.
|