Au-Kline Syndrome (AUKS)

Au-Kline syndrome (AKS) is a rare autosomal dominant genetic disorder caused by mutations in the HNRNPK gene, located on chromosome 9 at position q21.32. AKS is characterized by intellectual disability, distinctive facial features, and developmental delays, with symptoms typically presenting at birth or early childhood. AKS initially identified in Japan in 1997 and was named after researchers Au and Kline, who independently discovered its genetic basis in 2015. This syndrome causes a variety of physical anomalies, including muscle weakness, speech delays, and skeletal irregularities. Diagnosis mainly involves genetic testing, while treatment focuses on different therapies to address the specific symptoms of each individual.