8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report

Area of Science:

• Genetics
• Psychiatry
• Skeletal Dysplasias

Background:

• Leri's pleonosteosis syndrome is an autosomal dominant disease associated with chromosome 8q22.1 microduplication, involving GDF6 and SDC2 genes.
• Existing research primarily focuses on the skeletal manifestations of this rare condition, often overlooking potential psychiatric comorbidities.

Observation:

• A case study of an 8-year-old girl with a family history of skeletal malformations and bipolar disorder (BD) is presented.
• The patient exhibited features consistent with Leri's pleonosteosis.

Findings:

• The report proposes a potential association between Leri's pleonosteosis and psychiatric symptoms, specifically bipolar disorder.
• This case adds to the growing body of evidence linking specific genetic regions to the risk of both psychiatric and rheumatological disorders.

Implications:

• Highlights the importance of considering psychiatric evaluations in patients diagnosed with Leri's pleonosteosis.
• Suggests that chromosome 8q22.1 microduplication may confer risk for a broader spectrum of symptoms than previously recognized.
• Encourages further investigation into the genetic underpinnings of comorbid skeletal and psychiatric conditions.