McLeod syndrome with a novel XK frameshift mutation: A case report.

ABSTRACT:

Rationale

McLeod 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 concerns

A 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.

Diagnosis

The patient was diagnosed with MLS based on t

SUBMITTER: Xia S 

PROVIDER: S-EPMC8913091 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature