Case Report: McLeod syndrome caused by a nonsense variant c.484C > T (p.Gln162Ter) in the XK gene in a Chinese Han family.

A novel XK c.484C > T (p.Gln162Ter) variant is linked to McLeod syndrome in a Chinese Han family, expanding the genetic and ethnic spectrum of the disease.

• Why it matters: McLeod syndrome is a rare neuroacanthocytosis with diverse clinical features, and understanding its genetic basis in different populations can improve diagnosis and management.
• What they did: Researchers analyzed clinical, laboratory, imaging, electrophysiologic, immunohematologic, and genetic data from a 59-year-old male and his family, including targeted sequencing and in silico structural prediction of the XK variant.
• The result: The family’s findings suggest the XK c.484C > T variant is associated with McLeod syndrome in this population, emphasizing the importance of combining acanthocyte assessment, blood group phenotyping, and genetic testing for early diagnosis.