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McLeod syndrome resulting from a novel XK mutation
Belinda K Singleton1, Carole A Green, Susanne Renaud
1Bristol Institute for Transfusion Sciences, Southmead Road, Bristol BS10 5ND, UK. belinda.singleton@nbs.nhs.uk
British Journal of Haematology
|August 6, 2003
Summary
McLeod Syndrome (MLS) is a rare X-linked disorder. A novel deletion in the XK gene causes MLS, affecting neurological and muscular functions, and leading to characteristic blood cell abnormalities.
Area of Science:
- Genetics
- Hematology
- Neurology
Background:
- McLeod Syndrome (MLS) is a rare X-linked disorder.
- It is characterized by hematopoietic abnormalities and late-onset neurological and muscular defects.
- MLS is linked to mutations in the XK gene and the McLeod blood group phenotype.
Observation:
- A patient with MLS presented with dementia, behavioral changes, chorea, cardiomyopathy, and neuropathic/myopathic changes.
- Blood smear revealed acanthocytes and elevated liver enzymes.
- Serological analysis confirmed reduced Kell antigen expression and identified heterozygous XK0 alleles in daughters.
Findings:
- A novel 7453-bp deletion in the XK gene, including exon 2, was identified as the molecular basis of MLS in this family.
- The patient's grandson, though asymptomatic, carries the XK0 allele, indicating a high likelihood of developing MLS.
- Flow cytometry confirmed reduced Kell antigen expression in affected males.
Implications:
- This discovery expands the understanding of genetic mutations causing McLeod Syndrome.
- Early identification of at-risk individuals, like the grandson, is possible through genetic analysis.
- Further research into XK gene mutations can inform diagnostic and therapeutic strategies for MLS.