[Nucleopathies in children].

Area of Science:

• Genetics and Molecular Biology
• Rare Diseases
• Pediatric Medicine

Context:

• Nucleopathies represent a class of rare genetic disorders stemming from abnormalities in nuclear proteins.
• Laminopathies, a subset of nucleopathies caused by mutations in the lamin A/C gene, primarily affect mesenchymal tissues.
• These disorders manifest in various forms, including tissue-specific (e.g., muscle, cardiac) and multisystemic (e.g., premature aging) syndromes.

Purpose:

• To provide a comprehensive overview of nucleopathies in pediatric populations.
• To elucidate the clinical manifestations, underlying genetic mutations, and pathophysiology of these rare diseases in children.
• To highlight the correlation between the onset age, disease severity, and prognosis of nucleopathies.

Summary:

• Nucleopathies are rare diseases characterized by nuclear protein abnormalities, with laminopathies being well-studied examples linked to lamin A/C gene mutations.
• Pediatric nucleopathies encompass both tissue-specific forms affecting muscles and multisystemic syndromes like premature aging, with earlier onset correlating to more severe outcomes.
• The article details the clinical presentation, causative mutations, and pathophysiology of nucleopathies observed in children, emphasizing the critical impact of early-onset disease.

Impact:

• Enhances understanding of rare pediatric genetic disorders.
• Provides valuable information for clinicians diagnosing and managing nucleopathies in children.
• Contributes to the knowledge base for future research into nucleopathy pathogenesis and therapeutic strategies.