X-linked intellectual developmental disorder

Definition:

X-linked intellectual developmental disorder (XLID), formerly known as X-linked mental retardation, is an inherited condition that causes failure to develop cognitive abilities because of mutations in several genes on the X chromosome. XLID is subdivided into syndromic and non-syndromic forms, depending on whether further abnormalities are found on physical examination, laboratory investigation and brain imaging.

References:

[1]. A Carrié, et al. A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat Genet. 1999 Sep;23(1):25-31. [Content Brief]

[2]. A Renieri, et al. Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view. J Cell Physiol. 2005 Jul;204(1):8-20. [Content Brief]

[3]. Annemieke J M H Verkerk, et al. CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability. Eur J Hum Genet. 2018 Apr;26(4):552-560. [Content Brief]

[4]. Cécile Mignon-Ravix, et al. Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes. Am J Med Genet A. 2014 Aug;164A(8):1991-7. [Content Brief]

[5]. Cheryl Shoubridge, et al. Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. Nat Genet. 2010 Jun;42(6):486-8. [Content Brief]

[6]. Claire C Homan, et al. Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. Am J Hum Genet. 2014 Mar 6;94(3):470-8. [Content Brief]

[7]. F L Raymond, et al. X linked mental retardation: a clinical guide. J Med Genet. 2006 Mar;43(3):193-200. [Content Brief]

[8]. Georg M Stettner, et al. Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion. Am J Med Genet A. 2011 Aug;155A(8):2003-7. [Content Brief]

[9]. H Hu, et al. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Mol Psychiatry. 2016 Jan;21(1):133-48. [Content Brief]

[10]. H-Hilger Ropers, et al. X-linked mental retardation. Nat Rev Genet. 2005 Jan;6(1):46-57. [Content Brief]

[11]. Ilaria Meloni, et al. FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Nat Genet. 2002 Apr;30(4):436-40. [Content Brief]

[12]. K M Allen, et al. PAK3 mutation in nonsyndromic X-linked mental retardation. Nat Genet. 1998 Sep;20(1):25-30. [Content Brief]

[13]. K Merienne, et al. A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Nat Genet. 1999 May;22(1):13-4. [Content Brief]

[14]. Kristine Freude, et al. Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. Am J Hum Genet. 2004 Aug;75(2):305-9. [Content Brief]

[15]. Krithika Vaidyanathan, et al. Identification and characterization of a missense mutation in the O-linked β- N-acetylglucosamine ( O-GlcNAc) transferase gene that segregates with X-linked intellectual disability. J Biol Chem. 2017 May 26;292(21):8948-8963. [Content Brief]

[16]. Lingli Huang, et al. A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. Am J Hum Genet. 2012 Oct 5;91(4):694-702. [Content Brief]

[17]. Lionel Van Maldergem, et al. Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth. Hum Mol Genet. 2013 Aug 15;22(16):3306-14. [Content Brief]

[18]. Maila Giannandrea, et al. Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am J Hum Genet. 2010 Feb 12;86(2):185-95. [Content Brief]

[19]. Marjolein H Willemsen, et al. Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. J Med Genet. 2014 Jul;51(7):487-94. [Content Brief]

[20]. Michael Field, et al. Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. Am J Hum Genet. 2007 Aug;81(2):367-74. [Content Brief]

[21]. P D'Adamo, et al. Mutations in GDI1 are responsible for X-linked non-specific mental retardation. Nat Genet. 1998 Jun;19(2):134-9. [Content Brief]

[22]. Patrick S Tarpey, et al. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet. 2009 May;41(5):535-43. [Content Brief]

[23]. Patrick Tarpey, et al. Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. Am J Hum Genet. 2004 Aug;75(2):318-24. [Content Brief]

[24]. R Zemni, et al. A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. Nat Genet. 2000 Feb;24(2):167-70. [Content Brief]

[25]. Raman Kumar, et al. THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. Am J Hum Genet. 2015 Aug 6;97(2):302-10. [Content Brief]

[26]. Thenral S Geetha, et al. Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India. Hum Mutat. 2014 Jan;35(1):41-4. [Content Brief]

[27]. Thierry Bienvenu, et al. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet. 2002 Apr 15;11(8):981-91. [Content Brief]

[28]. Wujood Khayat, et al. A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. Hum Mol Genet. 2019 Feb 15;28(4):598-614. [Content Brief]

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