X-linked syndromic intellectual developmental disorder

[1]. C Bonnet, et al. Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation. Am J Med Genet A. 2009 Jun;149A(6):1280-9. [Content Brief]

[2]. Cíntia B Santos-Rebouças, et al. A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay. Neurosci Lett. 2011 Jul 1;498(1):67-71. [Content Brief]

[3]. Dennis Mircsof, et al. Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects. Nat Neurosci. 2015 Dec;18(12):1731-6. [Content Brief]

[4]. E E Palmer, et al. De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. Mol Psychiatry. 2018 Feb;23(2):222-230. [Content Brief]

[5]. Elin Tønne, et al. Syndromic X-linked intellectual disability segregating with a missense variant in RLIM. Eur J Hum Genet. 2015 Dec;23(12):1652-6. [Content Brief]

[6]. F Lucy Raymond, et al. Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. Am J Hum Genet. 2007 May;80(5):982-7. [Content Brief]

[7]. Frédéric Laumonnier, et al. Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am J Hum Genet. 2002 Dec;71(6):1450-5. [Content Brief]

[8]. Guy Froyen, et al. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet. 2008 Feb;82(2):432-43. [Content Brief]

[9]. Hilde Van Esch, et al. Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism. Am J Hum Genet. 2019 May 2;104(5):957-967. [Content Brief]

[10]. Jason A O'Rawe, et al. TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. Am J Hum Genet. 2015 Dec 3;97(6):922-32. [Content Brief]

[11]. Jennifer M Bain, et al. Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females. Am J Hum Genet. 2016 Sep 1;99(3):728-734. [Content Brief]

[12]. Jihui Qiu, et al. The X-linked mental retardation gene PHF8 is a histone demethylase involved in neuronal differentiation. Cell Res. 2010 Aug;20(8):908-18. [Content Brief]

[13]. John A Damiano, et al. Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum. Epilepsia. 2017 Mar;58(3):e40-e43. [Content Brief]

[14]. Juliane Ramser, et al. A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor. Hum Mol Genet. 2005 Apr 15;14(8):1019-27. [Content Brief]

[15]. Kyoko Takano, et al. An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. Hum Mol Genet. 2012 Oct 15;21(20):4497-507. [Content Brief]

[16]. Leda Paganini, et al. A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins. Clin Genet. 2019 Mar;95(3):368-374. [Content Brief]

[17]. Lot Snijders Blok, et al. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. Am J Hum Genet. 2015 Aug 6;97(2):343-52. [Content Brief]

[18]. M Al-Owain, et al. Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance. Clin Genet. 2011 Apr;79(4):363-70. [Content Brief]

[19]. M Felicia Basilicata, et al. De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nat Genet. 2018 Oct;50(10):1442-1451. [Content Brief]

[20]. Nelson H C Castro, et al. Shashi XLMR syndrome: report of a second family. Am J Med Genet A. 2003 Apr 1;118A(1):49-51. [Content Brief]

[21]. P Couvert, et al. MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet. 2001 Apr 15;10(9):941-6. [Content Brief]

[22]. Patrick S Tarpey, et al. Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nat Genet. 2007 Sep;39(9):1127-33. [Content Brief]

[23]. Pierre Cacciagli, et al. AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). Eur J Hum Genet. 2014 Mar;22(3):363-8. [Content Brief]

[24]. Rafaella M P Nascimento, et al. UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. Am J Hum Genet. 2006 Sep;79(3):549-55. [Content Brief]

[25]. Sarah K Fiordaliso, et al. Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment. Am J Hum Genet. 2019 Nov 7;105(5):987-995. [Content Brief]

[26]. Susan S Brooks, et al. A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans. Genetics. 2014 Oct;198(2):723-33. [Content Brief]

[27]. Tadashi Nakagawa, et al. X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression. Mol Cell. 2011 Aug 5;43(3):381-91. [Content Brief]

[28]. Yu-Ri Lee, et al. Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. Nat Commun. 2020 Jul 23;11(1):3698. [Content Brief]