Objective: To present five new McLeod Syndrome (MLS) pedigrees with novel XK gene mutations, review the literature of this disorder, and discuss the typical and atypical clinical features noted with these new mutations. Methods: This is a multi-center retrospective review of five MLS cases with novel gene mutations. Genotypic and phenotypic information has been obtained from each center. Results: Five novel mutations are reported in this Case series. New clinical findings include prolonged asymptomatic elevated creatine kinase (CK) levels, vocal tics, presence of obstructive sleep apnea (OSA), and one patient of Vietnamese ethnicity. Conclusions: We expand on the clinical and genetic spectrum of MLS demonstrating the clinical variability of MLS.
Bibliographical noteFunding Information:
Sarva H: 5% support from the Michael J Fox Foundation, received clinical trial support from Intec, Insightec, and Lundbeck Pharmaceuticals, and has received some internal funding from Weill Cornell Medicine.
Tuite P: Research grants from: Biogen, University of Minnesota, NIH, Northwestern University and MJ Fox Foundation, Bristols-Myers Squibb, and General Electric.
- McLeod syndrome
- Obstructive sleep apnea
PubMed: MeSH publication types
- Case Reports
- Journal Article
- Multicenter Study