A McLeod syndrome family and new novel XK gene mutation

Objective To explore the clinical and genetic features of McLeod syndrome caused by XK gene mutation. Methods The clinical data of a patient who came from the Affiliated Brain Hospital of Nanjing Medical University in May 2017 and diagnosed as McLeod syndrome by gene detection were analyzed. Gene analysis was also carried out in his family to confirm the result. Results Acanthocytes in peripheral blood, systemic chorea symptom, and increased serum levels of creatine kinase were observed in this patient and his brother. The proband and his brother showed half mutations. One of the proband′s sister was homozygous normal. The proband′s mother, one of the proband′s sister and the proband′s daughter showed heterozygous mutations. The family analysis accorded with X-linked recessive inheritance trait. Genetic testing for mutations in the XK gene revealed a previously unreported hemizygous single base-pair frame shift deletion at exon 3 (c.1004G>A). Conclusions A rare phenotype of a patient with McLeod syndrome is first described in mainland of China which was discovered coincidentally during routine blood group testing and consecutively genetically confirmed. One novel mutation in XK gene was found in the patient. For old male patient with multiple system disorders including dyskinetic movement disorders, cardiopathy, acanthocytes and elevated serum creatine kinase, a genetic test for XK gene mutation is highly suggested to confirm the McLeod syndrome. Key words: Chorea; Neuroacanthocytosis; Mutation; Pedigree; MeLeod syndrome