Bienvenu Thierry, Poirier Karine, Friocourt Gaelle, Bahi Nadia, Beaumont Delphine, Fauchereau Fabien, Ben Jeema Lamia, Zemni Ramzi, Vinet Marie-Claude, Francis Fiona, Couvert Philippe, Gomot Marie, Moraine Claude, van Bokhoven Hans, Kalscheuer Vera, Frints Suzanne, Gecz Josef, Ohzaki Kanae, Chaabouni Habiba, Fryns Jean-Pierre, Desportes Vincent, Beldjord Cherif, Chelly Jamel
Institut Cochin - CHU Cochin Port-Royal, 75014 Paris, France.
Hum Mol Genet. 2002 Apr 15;11(8):981-91. doi: 10.1093/hmg/11.8.981.
Investigation of a critical region for an X-linked mental retardation (XLMR) locus led us to identify a novel Aristaless related homeobox gene (ARX ). Inherited and de novo ARX mutations, including missense mutations and in frame duplications/insertions leading to expansions of polyalanine tracts in ARX, were found in nine familial and one sporadic case of MR. In contrast to other genes involved in XLMR, ARX expression is specific to the telencephalon and ventral thalamus. Notably there is an absence of expression in the cerebellum throughout development and also in adult. The absence of detectable brain malformations in patients suggests that ARX may have an essential role, in mature neurons, required for the development of cognitive abilities.
对一个X连锁智力迟钝（XLMR）基因座关键区域的研究使我们鉴定出一个新的无触角相关同源盒基因（ARX）。在9个家族性和1个散发性智力迟钝病例中发现了遗传性和新生的ARX突变，包括错义突变以及导致ARX中多聚丙氨酸序列扩展的框内重复/插入。与其他参与XLMR的基因不同，ARX的表达在端脑和腹侧丘脑具有特异性。值得注意的是，在整个发育过程以及成年期，小脑均无ARX表达。患者未检测到脑畸形，这表明ARX在成熟神经元中可能对认知能力的发展具有重要作用。
