Article
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.
Human molecular genetics - 15 Aug 2013
Van Maldergem Lionel, Hou Qingming, Kalscheuer Vera M, Rio Marlène, Doco-Fenzy Martine, Medeira Ana, de Brouwer Arjan P M, Cabrol Christelle, Haas Stefan A, Cacciagli Pierre, Moutton Sébastien, Landais Emilie, Motte Jacques, Colleaux Laurence, Bonnet Céline, Villard Laurent, Dupont Juliette, Man Heng-Ye
Abstract excerpt
Existence of a discrete new X-linked intellectual disability (XLID) syndrome due to KIAA2022 deficiency was questioned by disruption of KIAA2022 by an X-chromosome pericentric inversion in a XLID family we reported in 2004. Three additional families with likely pathogenic KIAA2022 mutations were discovered within the frame of systematic parallel sequencing of familial cases of XLID or in the context of routine...
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