May ME, Kennedy CH. Health and problem behavior among people with intellectual disabilities. Behav Anal Pr. 2010;3:4–12.
Battle DE. Diagnostic and Statistical Manual of Mental Disorders (DSM). Codas. 2013;25:191–2.
Hodges H, Fealko C, Soares N. Autism spectrum disorder: definition, epidemiology, causes, and clinical evaluation. Transl Pediatr. 2020;9:S55–65.
Article PubMed PubMed Central Google Scholar
Bodnar B, DeGruttola A, Zhu Y, Lin Y, Zhang Y, Mo X, et al. Emerging role of NIK/IKK2-binding protein (NIBP)/Trafficking protein particle complex 9 (TRAPPC9) in nervous system diseases. Transl Res. 2020;224:55–70.
Article CAS PubMed PubMed Central Google Scholar
Marangi G, Leuzzi V, Manti F, Lattante S, Orteschi D, Pecile V, et al. TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype. Eur J Hum Genet. 2013;21:229–32.
Article CAS PubMed Google Scholar
Chiurazzi P, Kiani AK, Miertus J, Paolacci S, Barati S, Manara E, et al. Genetic analysis of intellectual disability and autism. Acta Biomed. 2020;91:e2020003.
CAS PubMed PubMed Central Google Scholar
Kochinke K, Zweier C, Nijhof B, Fenckova M, Cizek P, Honti F, et al. Systematic phenomics analysis deconvolutes genes mutated in intellectual disability into biologically coherent modules. Am J Hum Genet. 2016;98:149–64.
Article CAS PubMed PubMed Central Google Scholar
Tejada MI, Ibarluzea N. Non-syndromic X linked intellectual disability: current knowledge in light of the recent advances in molecular and functional studies. Clin Genet. 2020;97:677–87.
Article CAS PubMed Google Scholar
Ts G, Ka M, MK, GK, Rc J, Bk T. Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India. Human Mutat. 2014;35. Available from: https://pubmed.ncbi.nlm.nih.gov/24115387/.
Schuler BA, Nelson ET, Koziura M, Cogan JD, Hamid R, Phillips JA. Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases. J Clin Invest. 2022;132. Available from: https://www.jci.org/articles/view/154942.
Sparrow SS, Cicchetti DV. The vineland adaptive behavior scales. In: Major psychological assessment instruments, Vol 2. Needham Heights, MA, US: Allyn & Bacon; 1989. p. 199–231.
Rellini E, Tortolani D, Trillo S, Carbone S, Montecchi F. Childhood Autism Rating Scale (CARS) and Autism Behavior Checklist (ABC) correspondence and conflicts with DSM-IV criteria in diagnosis of autism. J Autism Dev Disord. 2004;34:703–8.
Article CAS PubMed Google Scholar
Chouchen J, Mahfood M, Alobathani M, Eldin Mohamed WK, Tlili A. Clinical heterogeneity of the SLC26A4 gene in UAE patients with hearing loss and bioinformatics investigation of DFNB4/Pendred syndrome missense mutations. Int J Pediatr Otorhinolaryngol. 2021;140:110467.
Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods. 2014;11:361–2.
Article CAS PubMed Google Scholar
Hu J, Ng PC. Predicting the effects of frameshifting indels. Genome Biol. 2012;13:R9.
Article CAS PubMed PubMed Central Google Scholar
Yan Y, Zhang D, Zhou P, Li B, Huang SY. HDOCK: a web server for protein–protein and protein–DNA/RNA docking based on a hybrid strategy. Nucleic Acids Res. 2017;45:W365–73.
Article CAS PubMed PubMed Central Google Scholar
Lee JH, Huang CF, Chuang YJ, Lee CY, Yu WH, Wu CC, et al. Identifying new liver X receptor alpha modulators and distinguishing between agonists and antagonists by crystal ligand pocket screening. Future Med Chem. 2020; Available from: https://www.future-science.com/doi/abs/10.4155/fmc-2020-0069.
Gholkar AA, Senese S, Lo YC, Vides E, Contreras E, Hodara E, et al. The X-linked-intellectual-disability-associated ubiquitin ligase Mid2 interacts with astrin and regulates astrin levels to promote cell division. Cell Rep. 2016;14:180–8.
Article CAS PubMed Google Scholar
Zhang Y, Bitner D, Pontes Filho AA, Li F, Liu S, Wang H, et al. Expression and function of NIK- and IKK2-binding protein (NIBP) in mouse enteric nervous system. Neurogastroenterol Motil. 2014;26:77–97.
Article CAS PubMed Google Scholar
Abbasi AA, Blaesius K, Hu H, Latif Z, Picker-Minh S, Khan MN, et al. Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly. Am J Med Genet B Neuropsychiatr Genet. 2017;174:839–45.
Article CAS PubMed Google Scholar
Liang ZS, Cimino I, Yalcin B, Raghupathy N, Vancollie VE, Ibarra-Soria X, et al. Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity. PLoS Genet. 2020;16:e1008916.
Article CAS PubMed PubMed Central Google Scholar
Mir A, Kaufman L, Noor A, Motazacker MM, Jamil T, Azam M, et al. Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. Am J Hum Genet. 2009;85:909–15.
Article CAS PubMed PubMed Central Google Scholar
Mochida GH, Mahajnah M, Hill AD, Basel-Vanagaite L, Gleason D, Hill RS, et al. A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. Am J Hum Genet. 2009;85:897–902.
Article CAS PubMed PubMed Central Google Scholar
Philippe O, Rio M, Carioux A, Plaza JM, Guigue P, Molinari F, et al. Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation. Am J Hum Genet. 2009;85:903–8.
Article CAS PubMed PubMed Central Google Scholar
Koifman A, Feigenbaum A, Bi W, Shaffer LG, Rosenfeld J, Blaser S, et al. A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features. Am J Med Genet A. 2010;152A:1268–72.
Abou Jamra R, Wohlfart S, Zweier M, Uebe S, Priebe L, Ekici A, et al. Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. Eur J Hum Genet. 2011;19:1161–6.
Article CAS PubMed PubMed Central Google Scholar
Kakar N, Goebel I, Daud S, Nürnberg G, Agha N, Ahmad A, et al. A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly. Eur J Med Genet. 2012;55:727–31.
Giorgio E, Ciolfi A, Biamino E, Caputo V, Di Gregorio E, Belligni EF, et al. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: two proof-of-concept examples. Am J Med Genet A. 2016;170:1772–9.
Article CAS PubMed Google Scholar
Mortreux J, Busa T, Germain DP, Nadeau G, Puechberty J, Coubes C, et al. The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability. Eur J Hum Genet. 2018;26:143–8.
Article CAS PubMed Google Scholar
Duerinckx S, Meuwissen M, Perazzolo C, Desmyter L, Pirson I, Abramowicz M. Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1. Mol Genet Genom Med. 2018;6:660–5.
Hnoonual A, Graidist P, Kritsaneepaiboon S, Limprasert P. Novel compound heterozygous mutations in the TRAPPC9 gene in two siblings with autism and intellectual disability. Front Genet. 2019;10:61.
Article CAS PubMed PubMed Central Google Scholar
Bai Z, Kong X. [Diagnosis of a case with mental retardation due to novel compound heterozygous variants of TRAPPC9 gene]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019;36:1115–9.
Krämer J, Beer M, Bode H, Winter B. Two novel compound heterozygous mutations in the TRAPPC9 gene reveal a connection of non-syndromic intellectual disability and autism spectrum disorder. Front Genet. 2020;11:972.
Wilton KM, Gunderson LB, Hasadsri L, Wood CP, Schimmenti LA. Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta. Mol Genet Genom Med. 2020;8:e1211.
Alvarez-Mora MI, Corominas J, Gilissen C, Sanchez A, Madrigal I, Rodriguez-Revenga L. Novel compound heterozygous mutation in TRAPPC9 gene: the relevance of whole genome sequencing. Genes. 2021;12:557.
Article CAS PubMed PubMed Central Google Scholar
Ben Ayed I, Bouchaala W, Bouzid A, Feki W, Souissi A, Ben Nsir S, et al. Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly. Eur J Med Genet. 2021;64:104373.
Yousefipour F, Mozhdehipanah H, Mahjoubi F. Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran. Mol Genet Genom Med. 2021;9:e1610.
Radenkovic S, Martinelli D, Zhang Y, Preston GJ, Maiorana A, Terracciano A, et al. TRAPPC9-CDG: a novel congenital disorder of glycosylation with dysmorphic features and intellectual disability. Genet Med. 2022;24:894–904.
Article CAS PubMed Google Scholar
Uctepe E, Yesilyurt A, Esen FN, Tümer S, Mancılar H, Sonmez FM. TRAPPC9-related intellectual disability: report of two new cases and review of the literature. Mol Syndromol. 2023;14:485–92.
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