Van Esch H, Devriendt K
Centre for Human Genetics, University of Leuven, Belgium.
Cell Mol Life Sci. 2001 Aug;58(9):1296-300. doi: 10.1007/pl00000940.
Recently, a member of the GATA-binding family of transcription factors was shown to be involved in the human hypoparathyroidism, sensorineural deafness and renal anomalies (HDR) syndrome. Deletion-mapping studies and subsequent mutation analysis revealed that haploinsufficiency for GATA3 is the underlying mechanism of the HDR syndrome. Here we discuss the clinical characteristics of the HDR syndrome and present an overview of the role of GATA3 and related GATA-binding transcription factors during vertebrate embryonic development and their involvement in human disease.
最近，有研究表明，GATA结合转录因子家族的一个成员与人类甲状旁腺功能减退、感音神经性耳聋和肾脏异常（HDR）综合征有关。缺失定位研究及随后的突变分析显示，GATA3单倍体不足是HDR综合征的潜在机制。在此，我们讨论HDR综合征的临床特征，并概述GATA3及相关GATA结合转录因子在脊椎动物胚胎发育过程中的作用及其与人类疾病的关系。
