Jolin Edith M, Weller Elizabeth B, Weller Ronald A
Children's Hospital of Philadelphia, Department of Child and Adolescent Psychiatry, 3440 Market Street, Suite 200, Philadelphia, PA 19104, USA.
Curr Psychiatry Rep. 2006 Apr;8(2):90-5. doi: 10.1007/s11920-006-0004-4.
Recent advances in molecular genetics have led to new insights on the velocardiofacial syndrome (VCFS). Most patients have a large deletion on one copy of chromosome 22 (encompassing up to 30 genes), which can be confirmed with genetic testing. A wide spectrum of psychiatric symptoms has been reported in patients with VCFS, including schizophrenia and bipolar disorder. Preliminary studies of candidate genes from the deletion region suggest that allelic differences may increase susceptibility to psychiatric disorders, but these studies await replication. Mouse models with genetically engineered deletions have the potential to isolate the genes associated with VCFS neuropsychiatric symptoms. VCFS is likely to represent the deficiency of several genes with complex interactions. Further psychiatric research is warranted to delineate more comprehensively the neuro-psychiatric phenotype associated with VCFS. Accurate psychiatric diagnosis will better inform and advance ongoing genetic research.
分子遗传学的最新进展为腭心面综合征（VCFS）带来了新的见解。大多数患者的22号染色体的一个拷贝上有一个大的缺失（包含多达30个基因），这可以通过基因检测得到证实。据报道，VCFS患者存在广泛的精神症状，包括精神分裂症和双相情感障碍。对缺失区域候选基因的初步研究表明，等位基因差异可能会增加患精神疾病的易感性，但这些研究有待重复验证。具有基因工程缺失的小鼠模型有可能分离出与VCFS神经精神症状相关的基因。VCFS可能代表了几个具有复杂相互作用的基因的缺陷。有必要进行进一步的精神病学研究，以更全面地描绘与VCFS相关的神经精神表型。准确的精神病学诊断将更好地为正在进行的基因研究提供信息并推动其发展。
