Category: Choreas (Non-Huntington's Disease)
Objective: To present a new McLeod syndrome patient with a novel XKmutation to expand the current knowledge on this disease.
Background: McLeod syndrome is an X-linked recessive disorder with mutation in the XK gene of the Kell blood group system with hematological, neuromuscular and central nervous system involvement. Up to now, about fifty pathogenic mutations in XK gene have been reported.
Method: We retrospectively analyzed the clinical data of the patient and then performed the whole-exome sequencingon this patient.The effects of identified variants were classified according to the American College of Medical Genetics and Genomics (ACMG) standards and guidelines.
Results: The patient was a 57-year-old Chinese man presenting with movement disorders (oral dyskinesia, chorea and unsteady gait), neuropathy and mild cognition impairment. Laboratory tests revealed elevated serum creatine kinase and acanthocytes. WES detected a novel truncated XK mutation (c.898delC, p.L300*) which was classified as “pathogenic” according to the ACMG guideline.
Conclusion: We further report a novel truncated variant in XK and broaden the genotype spectrum of XK.
To cite this abstract in AMA style:J. Ma, Y.M Liu. Identification of a novel XK mutation in a Chinese patient with McLeod Syndrome [abstract]. Mov Disord. 2020; 35 (suppl 1). https://www.mdsabstracts.org/abstract/identification-of-a-novel-xk-mutation-in-a-chinese-patient-with-mcleod-syndrome/. Accessed December 5, 2023.
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MDS Abstracts - https://www.mdsabstracts.org/abstract/identification-of-a-novel-xk-mutation-in-a-chinese-patient-with-mcleod-syndrome/