A Novel c.459_460insC Variation in the XK Gene Associated with McLeod Syndrome

Introduction: McLeod syndrome (MLS) is a rare X-linked recessive disorder affecting multiple systems. Herein, we present the clinical symptoms, laboratory diagnostic results, and genetic characteristics of a patient with MLS caused by a novel c.459_460insC variation in the XK gene. Case Presentation: A 58-year-old male Chinese patient presented with neurological symptoms, seeking belated medical attention at the hospital. Numerous laboratory tests indicated a high likelihood of MLS, featuring chronic granulomatosis and neuroacanthocytosis. The patient’s blood samples were sent to the Blood Center of Zhejiang Province, China, for further analysis. Sequencing analysis revealed a novel hemizygous c.459_460insC variation in exon 2 of the XK gene. Therefore, we identified a patient with MLS possessing a novel genetic variation (GenBank Accession No. OQ473658). Conclusion: Our findings elucidate a novel c.459_460insC variation associated with MLS, resulting in a frameshift and premature stop codon (p.Leu154Profs*45). The clinical manifestations, laboratory examination, and XK gene analysis in this case will aid in diagnosing MLS in future patients.