Autosomal recessive 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. To date, several causative genes have been identified. These genes have a variety of functions and participate in multiple biochemical pathways. In addition, there are several known disease loci for which genes have not yet been identified.

References:

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[12]. Elodie M Richard, et al. Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly. Am J Hum Genet. 2019 Oct 3;105(4):869-878. [Content Brief]

[13]. Emma L Baple, et al. Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures. Am J Hum Genet. 2014 Jan 2;94(1):87-94. [Content Brief]

[14]. Erik G Puffenberger, et al. Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One. 2012;7(1):e28936. [Content Brief]

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[21]. Iltaf Ahmed, et al. Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment. Hum Mol Genet. 2015 Jun 1;24(11):3172-80. [Content Brief]

[22]. Jennifer Morrison, et al. Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly. Genet Med. 2021 Nov;23(11):2213-2218. [Content Brief]

[23]. Lia Abbasi-Moheb, et al. Mutations in NSUN2 cause autosomal-recessive intellectual disability. Am J Hum Genet. 2012 May 4;90(5):847-55. [Content Brief]

[24]. Mariam Almuriekhi, et al. Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features. Cell Rep. 2015 Mar 10;10(9):1585-1598. [Content Brief]

[25]. Marie Bernkopf, et al. Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. Hum Mol Genet. 2014 Aug 1;23(15):4015-23. [Content Brief]

[26]. Masoud Garshasbi, et al. A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am J Hum Genet. 2008 May;82(5):1158-64. [Content Brief]

[27]. Minal Çalışkan, et al. Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. Hum Mol Genet. 2011 Apr 1;20(7):1285-9. [Content Brief]

[28]. Miriam S Reuter, et al. NDST1 missense mutations in autosomal recessive intellectual disability. Am J Med Genet A. 2014 Nov;164A(11):2753-63. [Content Brief]

[29]. Mohammad Mahdi Motazacker, et al. A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am J Hum Genet. 2007 Oct;81(4):792-8. [Content Brief]

[30]. Muhammad Ansar, et al. Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay. Genet Med. 2018 Jul;20(7):778-784. [Content Brief]

[31]. Muhammad Arshad Rafiq, et al. Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet. 2011 Jul 15;89(1):176-82. [Content Brief]

[32]. Periklis Makrythanasis, et al. Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. Am J Hum Genet. 2016 Apr 7;98(4):615-26. [Content Brief]

[33]. Poh Hui Chia, et al. A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability. Elife. 2018 May 22;7:e32451. [Content Brief]

[34]. Qing Ouyang, et al. Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features. Proc Natl Acad Sci U S A. 2016 Sep 20;113(38):E5598-607. [Content Brief]

[35]. R Harripaul, et al. Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. Mol Psychiatry. 2018 Apr;23(4):973-984. [Content Brief]

[36]. Rafiullah Rafiullah, et al. Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family. J Med Genet. 2016 Feb;53(2):138-44. [Content Brief]

[37]. Ranad Shaheen, et al. A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition. Hum Genet. 2016 Jul;135(7):707-13. [Content Brief]

[38]. Rosalind Law, et al. Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability. Am J Hum Genet. 2014 Dec 4;95(6):721-8. [Content Brief]

[39]. Sateesh Maddirevula, et al. GWAS signals revisited using human knockouts. Genet Med. 2018 Jan;20(1):64-68. [Content Brief]

[40]. Satoru Hashimoto, et al. MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. Science. 2011 Aug 26;333(6046):1161-3. [Content Brief]

[41]. Shahrouz Khoshbakht, et al. CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families. Arch Iran Med. 2021 May 1;24(5):364-373. [Content Brief]

[42]. Shams Anazi, et al. A null mutation in TNIK defines a novel locus for intellectual disability. Hum Genet. 2016 Jul;135(7):773-8. [Content Brief]

[43]. Shinichi Mitsui, et al. A mental retardation gene, motopsin/neurotrypsin/prss12, modulates hippocampal function and social interaction. Eur J Neurosci. 2009 Dec;30(12):2368-78. [Content Brief]

[44]. Simon Edvardson, et al. Mutations in the phosphatidylinositol glycan C ( PIGC) gene are associated with epilepsy and intellectual disability. J Med Genet. 2017 Mar;54(3):196-201. [Content Brief]

[45]. T Figueiredo, et al. A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability. Mol Psychiatry. 2016 Aug;21(8):1125-9. [Content Brief]

[46]. Vardha Ismail, et al. Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome. Am J Hum Genet. 2022 Jul 7;109(7):1217-1241. [Content Brief]

[47]. Víctor Faundes, et al. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. Am J Hum Genet. 2018 Jan 4;102(1):175-187. [Content Brief]

[48]. Wang Xin, et al. Primary function analysis of human mental retardation related gene CRBN. Mol Biol Rep. 2008 Jun;35(2):251-6. [Content Brief]

[49]. Yoshiko Murakami, et al. Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy. PLoS Genet. 2014 May 1;10(5):e1004320. [Content Brief]

[50]. Zafar Iqbal, et al. Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders. Hum Mol Genet. 2013 May 15;22(10):1960-70. [Content Brief]

[51]. Zafar Iqbal, et al. Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. Am J Hum Genet. 2015 Mar 5;96(3):386-96. [Content Brief]

[52]. Zohreh Fattahi, et al. Biallelic missense variants in ZBTB11 can cause intellectual disability in humans. Hum Mol Genet. 2018 Sep 15;27(18):3177-3188. [Content Brief]

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