3p interstitial deletion: novel case report and review

Area of Science:

• Genetics
• Developmental Biology
• Clinical Medicine

Background:

• 3p interstitial deletions are increasingly recognized as a cause of neurodevelopmental delay and intellectual disability.
• The condition has been described in 16 cases since 1979, suggesting a presumptive syndrome.
• Further case reports are crucial for solidifying the syndrome's definition.

Observation:

• A novel case presented with severe neurodevelopmental and psychomotor delays.
• Clinical features included distinct facial dysmorphism, organ malformations (cerebral, cardiac, genital), limb anomalies, sacral sinus, and hearing impairment.
• Genetic analysis identified a 12.5 Mb deletion at 3p12.3p14.1.

Findings:

• The deletion encompassed 31 open reading frames (ORFs).
• Key genes within the deleted region, including ROBO2, PDZRN3, MITF, and FOXP1, are implicated in neurodevelopment.
• The patient's phenotype aligns with previously reported cases, strengthening the syndrome's characterization.

Implications:

• This case adds significant clinical data to the understanding of 3p interstitial deletion syndrome.
• It reinforces the etiological link between this specific genetic deletion and neurodevelopmental disorders.
• The findings contribute to improved diagnosis and potential future therapeutic strategies for affected individuals.