Browse > Article
http://dx.doi.org/10.5734/JGM.2015.12.1.6

Diagnostic approach for genetic causes of intellectual disability  

Yim, Shin-Young (The Children's Rehabilitation Clinic, Department of Physical Medicine and Rehabilitation, Department of Medical Genetics, Ajou University School of Medicine)
Publication Information
Journal of Genetic Medicine / v.12, no.1, 2015 , pp. 6-11 More about this Journal
Abstract
Intellectual disability (ID) is the most common disability among people under the age of 20 years. In the absence of obvious non-genetic causes of ID, the majority of cases of severe ID are thought to have a genetic cause. The advent of technologies such as array comparative genomic hybridization, single nucleotide polymorphism genotyping arrays, and massively parallel sequencing has shown that de novo copy number variations and single nucleotide variations affecting coding regions are major causes of severe ID. This article reviews the genetic causes of ID along with diagnostic approaches for this disability.
Keywords
Intellectual disability; Diagnosis; Karyotyping; Comparative genomic hybridization; High-throughput nucleotide sequencing;
Citations & Related Records
Times Cited By KSCI : 3  (Citation Analysis)
연도 인용수 순위
1 American Association on Intellectual and Developmental Disabilities. Intellectual disability: definition, classification, and systems of supports. 11th ed. Washington, DC: AAIDD, 2010.
2 Yim SY, Yu HH, Lee IY. The prevalence of mental retardation among third grade elementary school children in the Suwon area, Korea. J Korean Med Sci 2002;17:86-90.   DOI
3 Maulik PK, Mascarenhas MN, Mathers CD, Dua T, Saxena S. Prevalence of intellectual disability: a meta-analysis of population-based studies. Res Dev Disabil 2011;32:419-36.   DOI
4 Centers for Disease Control and Prevention (CDC). Economic costs associated with mental retardation, cerebral palsy, hearing loss, and vision impairment--United States, 2003. MMWR Morb Mortal Wkly Rep 2004;53:57-9.
5 de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012;367:1921-9.   DOI
6 Bessa C, Lopes F, Maciel P. Molecular genetics of intellectual disability. In: Tan U, ed. Latest findings in intellectual and developmental disabilities research. Rijeka Croatia: InTech, 2012.
7 Rajcan-Separovic E. Chromosome microarrays in human reproduction. Hum Reprod Update 2012;18:555-67.   DOI
8 Speicher MR, Carter NP. The new cytogenetics: blurring the boundaries with molecular biology. Nat Rev Genet 2005;6:782-92.   DOI
9 Rauch A, Hoyer J, Guth S, Zweier C, Kraus C, Becker C, et al. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A 2006;140:2063-74.
10 Stankiewicz P, Lupski JR. Structural variation in the human genome and its role in disease. Annu Rev Med 2010;61:437-55.   DOI
11 Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010;466:368-72.   DOI
12 Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BW, Willemsen MH, et al. Genome sequencing identifies major causes of severe intellectual disability. Nature 2014;511:344-7.   DOI
13 Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman F, et al. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 1992;258:818-21.   DOI
14 Mefford HC, Batshaw ML, Hoffman EP. Genomics, intellectual disability, and autism. N Engl J Med 2012;366:733-43.   DOI
15 Alkan C, Coe BP, Eichler EE. Genome structural variation discovery and genotyping. Nat Rev Genet 2011;12:363-76.   DOI
16 Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, et al. A copy number variation morbidity map of developmental delay. Nat Genet 2011;43:838-46.   DOI
17 Manning M, Hudgins L; Professional Practice and Guidelines Committee. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med 2010;12:742-5.   DOI
18 Brady PD, Vermeesch JR. Genomic microarrays: a technology overview. Prenat Diagn 2012;32:336-43.   DOI
19 Hochstenbach R, Buizer-Voskamp JE, Vorstman JA, Ophoff RA. Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research. Cytogenet Genome Res 2011;135:174-202.   DOI
20 Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010;86:749-64.   DOI
21 Yim SY, Jeon BH, Yang JA, Kim HJ. Fragile X syndrome in Korea: a case series and a review of the literature. J Korean Med Sci 2008;23:470-6.   DOI
22 Bedogni F, Rossi RL, Galli F, Cobolli Gigli C, Gandaglia A, Kilstrup-Nielsen C, et al. Rett syndrome and the urge of novel approaches to study MeCP2 functions and mechanisms of action. Neurosci Biobehav Rev 2014;46 Pt 2:187-201.   DOI
23 Ng SB, Nickerson DA, Bamshad MJ, Shendure J. Massively parallel sequencing and rare disease. Hum Mol Genet 2010;19:R119-24.   DOI
24 Ayarpadikannan S, Kim HS. The impact of transposable elements in genome evolution and genetic instability and their implications in various diseases. Genomics Inform 2014;12:98-104.   DOI
25 Jin HS, Lee JB, Kim K, Lee KY, Choi VN, Kim JS, et al. Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness. J Hum Genet 2014;59:643-7.   DOI
26 Smemo S, Tena JJ, Kim KH, Gamazon ER, Sakabe NJ, Gomez-Marin C, et al. Obesity-associated variants within FTO form long-range functional connections with IRX3. Nature 2014;507:371-5.   DOI