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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...

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Identifiers

PMID: 23615299
DOI: 10.1093/hmg/ddt187
PMCID: PMC3723314

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23615299-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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