Autosomal dominant intellectual developmental disorder

Definition:

Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. Most causative genes identified so far are either located on the X chromosome or are associated with an autosomal recessive mode of inheritance. Recently, a lot of genes associated with autosomal dominant mental retardation have been identified.

References:

[1]. Anita Rauch, et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012 Nov 10;380(9854):1674-82. [Content Brief]

[2]. Anna R Duncan, et al. Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. Am J Hum Genet. 2020 Dec 3;107(6):1170-1177. [Content Brief]

[3]. Anne Gregor, et al. De novo mutations in the genome organizer CTCF cause intellectual disability. Am J Hum Genet. 2013 Jul 11;93(1):124-31. [Content Brief]

[4]. B W M van Bon, et al. Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. Clin Genet. 2011 Mar;79(3):296-9. [Content Brief]

[5]. Blake C Ballif, et al. High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. Hum Genet. 2012 Jan;131(1):145-56. [Content Brief]

[6]. Bradley L Griggs, et al. Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities. Genomics. 2008 Feb;91(2):195-202. [Content Brief]

[7]. Can Liao, et al. Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation. Eur J Med Genet. 2013 Sep;56(9):484-9. [Content Brief]

[8]. Deciphering Developmental Disorders Study, et al. Large-scale discovery of novel genetic causes of developmental disorders. Nature. 2015 Mar 12;519(7542):223-8. [Content Brief]

[9]. Detelina Grozeva, et al. De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. Am J Hum Genet. 2014 Apr 3;94(4):618-24. [Content Brief]

[10]. Emma Tham, et al. Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. Am J Hum Genet. 2015 Mar 5;96(3):507-13. [Content Brief]

[11]. Fadi F Hamdan, et al. Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet. 2011 Mar 11;88(3):306-16. [Content Brief]

[12]. Fadi F Hamdan, et al. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2017 Nov 2;101(5):664-685. [Content Brief]

[13]. Fan Xia, et al. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 May 1;94(5):784-9. [Content Brief]

[14]. Ghayda M Mirzaa, et al. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genet Med. 2020 Mar;22(3):538-546. [Content Brief]

[15]. Holly A F Stessman, et al. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nat Genet. 2017 Apr;49(4):515-526. [Content Brief]

[16]. J Nakajima, et al. De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy. Clin Genet. 2015 Apr;87(4):356-61. [Content Brief]

[17]. Janneke H M Schuurs-Hoeijmakers, et al. Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. Am J Hum Genet. 2012 Dec 7;91(6):1122-7. [Content Brief]

[18]. Joep de Ligt, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012 Nov 15;367(20):1921-9. [Content Brief]

[19]. K Huang, et al. SYNGAP: bridging the gap between genetic factors and autosomal non-syndromic mental retardation. Clin Genet. 2009 Aug;76(2):149-51. [Content Brief]

[20]. Kavita Bhalla, et al. Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability. Am J Hum Genet. 2008 Dec;83(6):703-13. [Content Brief]

[21]. Lot Snijders Blok, et al. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Hum Genet. 2018 May;137(5):375-388. [Content Brief]

[22]. Marjolein H Willemsen, et al. GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. J Med Genet. 2013 Aug;50(8):507-14. [Content Brief]

[23]. Marjolein H Willemsen, et al. Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. J Med Genet. 2012 Mar;49(3):179-83. [Content Brief]

[24]. Markus Zweier, et al. Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Hum Mutat. 2010 Jun;31(6):722-33. [Content Brief]

[25]. Michael Feyder, et al. Association of mouse Dlg4 (PSD-95) gene deletion and human DLG4 gene variation with phenotypes relevant to autism spectrum disorders and Williams' syndrome. Am J Psychiatry. 2010 Dec;167(12):1508-17. [Content Brief]

[26]. Nina De Rocker, et al. Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity. Genet Med. 2015 Jun;17(6):460-6. [Content Brief]

[27]. Sabine Endele, et al. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet. 2010 Nov;42(11):1021-6. [Content Brief]

[28]. Sébastien Küry, et al. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov 2;101(5):768-788. [Content Brief]

[29]. Slavé Petrovski, et al. Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. Am J Hum Genet. 2016 May 5;98(5):1001-1010. [Content Brief]

[30]. Stephen R Williams, et al. Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Eur J Hum Genet. 2010 Apr;18(4):436-41. [Content Brief]

[31]. Yoshinori Tsurusaki, et al. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet. 2012 Mar 18;44(4):376-8. [Content Brief]

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