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McLeod syndrome: Five new pedigrees with novel mutations
J Weaver1, H Sarva1, D Barone1
1Department of Neurology, New York Presbyterian-Weill Cornell Medical Center, New York, NY, USA.
Parkinsonism & Related Disorders
|May 20, 2019
Summary
This study identifies five new McLeod Syndrome (MLS) pedigrees with novel XK gene mutations, expanding the known genetic and clinical spectrum of this rare disorder.
Area of Science:
- Genetics
- Neurology
- Hematology
Background:
- McLeod Syndrome (MLS) is a rare X-linked disorder caused by mutations in the XK gene.
- It presents with a variable phenotype, including neurological, hematological, and cardiac abnormalities.
Observation:
- This case series presents five new MLS pedigrees with previously unidentified XK gene mutations.
- Phenotypic information was gathered retrospectively from multiple centers.
Findings:
- Novel mutations in the XK gene were identified in five MLS patients.
- New clinical manifestations observed include prolonged asymptomatic elevated creatine kinase (CK) levels, vocal tics, and obstructive sleep apnea (OSA).
- One patient of Vietnamese ethnicity was included, highlighting ethnic diversity in MLS.
Implications:
- The findings expand the known genetic and clinical spectrum of McLeod Syndrome.
- This research underscores the significant clinical variability associated with MLS, aiding in broader diagnostic considerations.
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