Biesecker L G
National Human Genome Research Institute, 49 Convent Drive Room 4A80, Bethesda, MD 20892-4472, USA.
J Med Genet. 2006 Jun;43(6):465-9. doi: 10.1136/jmg.2004.029181.
The study of patients with rare multiple congenital anomaly syndromes can provide illuminating insights into normal development and the pathogenesis of congenital anomalies. The GLI3 gene is a particularly good example as it illuminates the phenomena of pleiotropy, phenocopies, syndrome families, and evolutionary conservation of pathogenesis, and raises questions about how diagnoses are conceptualised. These topics are reviewed in turn, in the context of the clinical and biological data derived from patients with mutations in GLI3 and experimental work in model systems.
对患有罕见多重先天性异常综合征的患者进行研究，能够为正常发育以及先天性异常的发病机制提供具有启发性的见解。GLI3基因就是一个特别好的例子，因为它阐明了多效性、表型模拟、综合征家族以及发病机制的进化保守性等现象，并引发了关于诊断如何概念化的问题。本文将结合来自GLI3基因突变患者的临床和生物学数据以及模型系统中的实验工作，依次对这些主题进行综述。
