Fitzpatrick David R, van Heyningen Veronica
Medical Research Council, Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK.
Curr Opin Genet Dev. 2005 Jun;15(3):348-53. doi: 10.1016/j.gde.2005.04.013.
In developed countries, malformations of the eye are among the most common causes of serious visual impairment in newborns. The identification of pathogenic mutations in autosomal and X-linked transcription factors has advanced our understanding of the critical stages in human eye development and has begun to explain some unusual inheritance characteristics of these disorders. The functional characterisation of these genes in model organisms has prompted reinvestigation of affected individuals to identify previously unrecognized but consistent extra-ocular malformations. This dialogue between clinical genetics and basic developmental biology provides a paradigm to enhance our understanding of many critical developmental processes in human embryogenesis.
在发达国家，眼部畸形是新生儿严重视力损害的最常见原因之一。常染色体和X连锁转录因子中致病突变的鉴定，加深了我们对人类眼睛发育关键阶段的理解，并开始解释这些疾病一些不寻常的遗传特征。在模式生物中对这些基因的功能表征，促使对受影响个体进行重新研究，以识别先前未被认识但一致的眼外畸形。临床遗传学与基础发育生物学之间的这种对话，为增进我们对人类胚胎发生中许多关键发育过程的理解提供了一个范例。
