| 1 | DUPXQ13, FTX, NEXMIF, RLIM, SLC16A2
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| RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features
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| Palmer EE, Carroll R, Shaw M, Kumar R, Minoche AE, Leffler M, Murray L, Macintosh R, Wright D, Troedson C, McKenzie F, Townshend S, Ward M, Nawaz U, Ravine A, Runke CK, Thorland EC, Hummel M, Foulds N, Pichon O, Isidor B, Le Caignec C, Demeer B, Andrieux J, Albarazi SH, Bye A, Sachdev R, Kirk EP, Cowley MJ, Field M, Gecz J.
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| Am J Hum Genet. Oct 28:S0002-9297(20)30363-3. doi: 10.1016/j.ajhg.2020.10.005. Epub ahead of print. 2020
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| 2 | DUPXQ13, FTX, NEXMIF, RLIM, SLC16A2
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| RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features. 2020 Dec 3;107(6):1157-1169. doi: 10.1016/j.ajhg.2020.10.005. Epub 2020 Nov 6. PMID:
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| Palmer EE, Carroll R, Shaw M, Kumar R, Minoche AE, Leffler M, Murray L, Macintosh R, Wright D, Troedson C, McKenzie F, Townshend S, Ward M, Nawaz U, Ravine A, Runke CK, Thorland EC, Hummel M, Foulds N, Pichon O, Isidor B, Le Caignec C, Demeer B, Andrieux J, Albarazi SH, Bye A, Sachdev R, Kirk EP, Cowley MJ, Field M, Gecz J
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| Am J Hum Genet. Dec 3;107(6):1157-1169. doi: 10.1016/j.ajhg.2020.10.005. Epub 2020 Nov 6. 2020
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| 3 | MRX98, NEXMIF
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| De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.
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| Webster R, Cho MT, Retterer K, Millan F, Nowak C, Douglas J, Ahmad A, Raymond GV, Johnson MR, Pujol A, Begtrup A, McKnight D, Devinsky O, Chung WK.
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| Clin Genet 91(5):756-763. doi: 10.1111/cge.12854. Epub 2016 Sep 29. No abstract available.
2017
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| 4 | MRX98, NEXMIF
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| De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
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| de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, Dolzhanskaya N, Marsh E, Helbig I, Devinsky O, Tang S, Mefford HC, Myers CT, van Paesschen W, Striano P, van Gassen K, van Kempen M, de Kovel CG, Piard J, Minassian BA, Nezarati MM, Pessoa A, Jacquette A, Maher B, Balestrini S, Sisodiya S, Warde MT, De St Martin A, Chelly J; EuroEPINOMICS-RES MAE working group, van 't Slot R, Van Maldergem L, Brilstra EH, Koeleman BP.
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| J Med Genet 53(12):850-858. doi: 10.1136/jmedgenet-2016-103909. Epub 2016 Jun 29.
2016
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| 5 | MRX98, NEXMIF
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| De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
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| de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, Dolzhanskaya N, Marsh E, Helbig I, Devinsky O, Tang S, Mefford HC, Myers CT, van Paesschen W, Striano P, van Gassen K, van Kempen M, de Kovel CG, Piard J, Minassian BA, Nezarati MM, Pessoa A, Jacquette A, Maher B, Balestrini S, Sisodiya S, Warde MT, De St Martin A, Chelly J; EuroEPINOMICS-RES MAE working group, van 't Slot R, Van Maldergem L, Brilstra EH, Koeleman BP.
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| J Med Genet 53(12):850-858. doi: 10.1136/jmedgenet-2016-103909. Epub 2016 Jun 29.
2016
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| 6 | MRX98, NEXMIF
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| Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.
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| Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, Nagai J, Wada T, Kurosawa K.
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| Am J Med Genet A 167(6):1349-53. doi: 10.1002/ajmg.a.37002. Epub 2015 Apr 21.
2015
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| 7 | NEXMIF
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| XLMR protein related to neurite extension (Xpn/KIAA2022) regulates cell-cell and cell-matrix adhesion and migration.
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| Magome T, Hattori T, Taniguchi M, Ishikawa T, Miyata S, Yamada K, Takamura H, Matsuzaki S, Ito A, Tohyama M, Katayama T.
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| Neurochem Int 63(6):561-569. doi: 10.1016/j.neuint.2013.09.011. [Epub ahead of print] 2013
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| 8 | AUTSX7, MRX98, NEXMIF
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| Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.
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| Van Maldergem L, Hou Q, Kalscheuer VM, Rio M, Doco-Fenzy M, Medeira A, de Brouwer AP, Cabrol C, Haas SA, Cacciagli P, Moutton S, Landais E, Motte J, Colleaux L, Bonnet C, Villard L, Dupont J, Man HY.
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| Hum Mol Genet 22(16):3306-14. doi: 10.1093/hmg/ddt187. Epub 2013 Apr 24. 2013
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| 9 | NEXMIF
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| Transient expression of Xpn, an XLMR protein related to neurite extension, during brain development and participation in neurite outgrowth.
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| Ishikawa T, Miyata S, Koyama Y, Yoshikawa K, Hattori T, Kumamoto N, Shingaki K, Katayama T, Tohyama M.
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| Neuroscience 214:181-91. doi: 10.1016/j.neuroscience.2012.04.030. Epub 2012 Apr 21. 2012
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| 10 | MRX98, NEXMIF
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| Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation.
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| Cantagrel V, Haddad MR, Ciofi P, Andrieu D, Lossi AM, Maldergem Lv, Roux JC, Villard L.
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| Gene Expr Patterns 9(6):423-9. doi: 10.1016/j.gep.2009.06.001. Epub 2009 Jun 11. 2009
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| 11 | NEXMIF, P2RY8
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| Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males.
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| Cantagrel V, Lossi AM, Boulanger S, Depetris D, Mattei MG, Gecz J, Schwartz CE, Van Maldergem L, Villard L.
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| J Med Genet 41(10):736-42. 2004
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