Two case reports of RAB39B deletion displaying highly variable parkinsonism

Area of Science:

• Genetics
• Neurology
• Rare Diseases

Background:

• Waisman syndrome is a rare X-linked genetic disorder.
• It is associated with mutations in the RAB39B gene.
• Characterized by intellectual disability and parkinsonism.

Observation:

• Two cases of Waisman syndrome were analyzed.
• The first case involved a male with hemizygous deletion, exhibiting severe symptoms and acanthocytosis.
• The second case involved a female with heterozygous deletion and skewed X-inactivation.

Findings:

• RAB39B gene mutations are linked to Waisman syndrome.
• Hemizygous deletion in males results in severe symptoms, including acanthocytosis.
• Heterozygous deletion in females can lead to skewed X-inactivation and variable disease presentation.

Implications:

• Understanding RAB39B mutations deepens knowledge of X-linked intellectual disability and parkinsonism.
• This research may inform genetic counseling and diagnostic approaches for Waisman syndrome.
• Further research into X-inactivation patterns could elucidate disease variability in affected females.