• Shilin Xia, Xinrui Yu, Fan Song, Bo Sun, and Ying Wang.
• Clinical Laboratory of Integrative Medicine, The First Affiliated Hospital of Dalian Medical University, Dalian, China.
• Medicine (Baltimore). 2022 Mar 11; 101 (10): e28996.

RationaleMcLeod syndrome (MLS) is a rare X-linked neurohematologic disorder caused by loss-of-function mutations in the XK gene. However, variations in the XK gene remain to be elucidated. Here, we report the clinical phenotype and genetic features of a patient with MLS caused by a novel frameshift mutation in the XK gene.Patient ConcernsA 44-year-old man presented with chorea, cognitive impairment, mental disorders, and seizures accompanied by peripheral neuropathy, hyperCKemia, and acanthocytosis. The proband's mother had a mild chorea. One older brother who died 10 years ago without a confirmed diagnosis showed symptoms of both chorea and mental disorders, while the other brother also developed mild chorea.DiagnosisThe patient was diagnosed with MLS based on the family history, clinical manifestations, and accessory examinations. Whole-exome sequencing studies revealed a novel frameshift mutation resulting from a nucleotide variation in exon 2 (452delA) that leads to an amino acid residue conversion from Gln to Arg and early termination of the XK protein (Gln151ArgfsTer2). The patient and one of his older brothers were hemizygotes, and his mother was heterozygous.InterventionsThe patient was treated with haloperidol to control chorea and levetiracetam to control seizures.OutcomesSix months after treatment, the proband was seizure-free, but showed little improvement in chorea and cognitive dysfunction.LessonWe describe a family with MLS caused by a novel frameshift mutation in the XK gene. The causes of the mild clinical presentation in the proband's mother require further investigation.Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.

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