2011, Number 2
<< Back Next >>
Rev Cub Gen 2011; 5 (2)
Genetics and Intellectual Disability. A review
Licea RMA, Taboada LN, Lardoeyt FR, Lardoeyt FM
Language: Spanish
References: 23
Page: 14-19
PDF size: 291.54 Kb.
ABSTRACT
Mental retardation is a group of cognitive disorders with
a significant worldwide prevalence rate being highly heterogeneous
and complex. Genetic causes can be classified
as chromosomal abnormalities, single gene disorders, or
multifactorial. The genetic study of this disability is one of
the most complex fields of medical genetics due to its high
clinical and genetic heterogeneity, to the great complexity
of the genetic basis, and the small number of individuals
with the same etiology, although the overall incidence of
mental retardation is high. While the diseases associated
with mental retardation are diverse, a significant number
are linked with disruptions in epigenetic mechanisms. The
goal of this review is to give an updated view of the genetic
causes of mental retardation.
REFERENCES
Alliende MA, Cámpora L, Curotto B, Toro J, Valiente A, Castillo M. Búsqueda de afecciones genéticas como etiología de déficit intelectual en individuos que asisten a escuelas de educación especial. Rev Med Chile. 2008;136(12):1542-51.
Rodríguez RB, Madrigal BI, Milà RM. Genetic mental retardation. Rev Neurol. 2006;10(43) Suppl 1:181-6.
Chelly J, Khelfaoni M, Francia F, Cherif B, Bienvenu T. Genetics and pathophysiology of mental retardation. Eur Journal of Human Genetics. 2006;14:701-13.
Rejeb I, Ben JL, Abaied L, Kraoua L, Saillour Y, Maazoul F, et al. A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation. Eur J Med Genet. 2011;54(3):241-6.
Van Bokhoven H. Genetic and epigenetic networks in intellectual disabilities. Annu Rev Genet. 2011;(45):81-104.
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(3-4):174-202.
Milà RM, Rodríguez RB, Madrigal BI. Diagnóstico del retraso mental de origen genético. Protocolo de estudio. Rev Neurol. 2006;42(Suppl. 1):103-7.
Vissers L, de Vries B, Veltman JA. Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis. Med Genet. 2010;47:289-297.
Guitar FM, Brunet VA, Villatoro GS, Baena DN, Gabau VE. Causas cromosómicas que originan el retraso mental: alteraciones cromosómicas diagnosticables en el paciente. Rev Neurol. 2006;42(Suppl. 1):21-6.
Zrnová E, Vranová V, Slámová I, Gaillyová R, Kuglík P. Analysis of Chromosomal Aberrations in Patients with Mental Retardation Using the Array-CGH Technique: a Single Czech Centre Experience. Folia Biol Praha. 2011;57(5):206-15.
Stevens SJ, Van Ravenswaaij AC, Janssen JW, Klein WR, Van Essen AJ, Dijkhuizen T, et al. MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions. Am J Med Genet A. 2011;155A(11):2739-45.
Kitsiou-Tzeli S, Frysira H, Giannikou K, Syrmou A, Kosma K, Kakourou G. Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH.Gene. 2011;492(1):319-24.
Nakagawa T, Xiong Y. X-Linked Mental Retardation Gene CUL4B Targets Ubiquitylation of H3K4 Methyltransferase Component WDR5 and Regulates Neuronal Gene Expression. Molecular Cell. 2011;43(3):381-91.
Schütt J, Falley K, Richter D, Kreienkamp HJ, Kindler S. Fragile X mental retardation protein regulates the levels of scaffold proteins and glutamate receptors in postsynaptic densities. J Biol Chem. 2009;284(38):25479-87.
Rooms L, Kooy RF. Advances in understanding fragile X syndrome and related disorders. Curr Opin Pediatr. 2011;23(6):601-6.
Youngs EL, Henkhaus R, Hellings JA, Butler MG. IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features. Eur J Med Genet. 2011;78(11):737-47.
Rejeb I, Ben Jemaa L, Abaied L, Kraoua L, Saillour Y, Maazoul F. A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation. Eur J Med Genet. 2011;54(3):241-6.
Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, et al. X-linked protocadherin 19 mutations cause femalelimited epilepsy and cognitive impairment. Nat Genet. 2008;40(6):776-81.
Bedregal P, Shand B, Santos M, Ventura-Junca P. Aportes de la epigenética en la comprensión del desarrollo del ser humano. Rev Med Chile. 2010;138(3):366-72 .
Franklin TB, Mansuy IM. The involvement of epigenetic defects in mental retardation. In: Franklin TB, Mansuy IM. Neurobiology of Learning and Memory. New Zealand: Elsevier; 2011.
Urdinguio RG, Sanchez-Mut JV, Esteller M. Epigenetic mechanisms in neurological diseases: genes, syndromes, and therapies. The Lancet Neurology. 2009;8(11):1056-72.
Graff J and Mansuy IM. Epigenetic dysregulation in cognitive disorders. Eur J Neurosc. 2009;30:1-8.
Jouve de la Barreda N. Biomarcadores epigenéticos. [en línea] 2011 [fecha de acceso 4 de noviembre de 2011]. URL disponible en: http://www.analesranf.com/index.php/mono/article/viewFile/1065/1062