Objective: To explore the clinical and genetic features of Mcleod syndrome caused by XK gene mutation.

Background: A clincal case we observed in 2017.

Methods: The clinical data of a patient diagnosed as Mcleod syndrome by gene detection was analyzed. We also carried out gene analysis in his family to confirm the result.

Results: Acanthocytes in peripheral blood,systemic chorea symptom, and increased serum levels of CKP are observed in this patient and his brother. 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). This mutation creates a stop codon that results in truncation of XK protein. It can result in XK protein lost its tenth trasmembrane structure which considered to be a morbid mutation.

Conclusions: We hereby first describe a rare phenotype of a patient with McLeod syndrome in China mainland which was discovered coincidentally during routine blood group testing and consecutively genetically confirmed. One novel mutation in XK gene was found in our patient. We suggest that for old man patient with multiple system disorders including dyskinetic movement disorders, cardiopathy, acanthocytes and elevated CPK, a genetic test for XK gene mutation is highly indicated to confirm the McLeod syndrome.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/a-mcleod-syndrome-family-and-novel-xk-gene-mutation-in-china-mainland/