Piard Juliette, Mignot Brigitte, Arbez-Gindre Francine, Aubert Didier, Morel Yves, Roze Virginie, McElreavy Kenneth, Jonveaux Philippe, Valduga Mylène, Van Maldergem Lionel
Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.
Am J Med Genet A. 2014 Oct;164A(10):2618-22. doi: 10.1002/ajmg.a.36662. Epub 2014 Jun 26.
The molecular basis of male disorders of sex development (DSD) remains unexplained in a large number of cases. EMX2 has been proposed to play a role in the masculinization process for the past two decades, but formal evidence for this causal role is scarce. The aim of this study is to yield additional support to this hypothesis by reporting on a male patient who presented with 46,XY DSD, a single kidney, intellectual disability, and the smallest microdeletion including EMX2 reported to date. EMX2 haploinsufficiency is likely to explain the masculinization defect observed in our patient, similar to what has been described in the mouse. In the case of cytogenetically diagnosed cases, deletions of EMX2 have been associated with a wide range of DSD, ranging from hypospadias to complete sex reversal.
在大量病例中，男性性发育障碍（DSD）的分子基础仍未得到解释。在过去二十年里，有人提出EMX2在男性化过程中发挥作用，但支持这一因果关系的正式证据却很少。本研究的目的是通过报告一名患有46,XY DSD、单肾、智力残疾且携带迄今报道的包含EMX2的最小微缺失的男性患者，为这一假说提供更多支持。EMX2单倍体不足可能解释了在我们患者中观察到的男性化缺陷，这与在小鼠中所描述的情况类似。在细胞遗传学诊断的病例中，EMX2的缺失与广泛的DSD有关，从尿道下裂到完全性反转。
