The Association Between Austism Spectrum and the Y Chromosome

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Due Date: Monday, the 5th of May 2014



Autism arises at embryonic period and proceeds for a life time of a patient. Symptoms of autism spectrum disorders (ASD) are the weakness in communication, perceptual disorder, mental deficiency, tendency to isolate themselves from other people and repetitive behaviors. Obvious evidence was achieved from many previous genetic researches that genetic factors have a major effect on the autism disorders. However, the genetics of the ASD is so complex that it comprises mutations observed in multiple loci as well as interactions between multiple genes.1

In previous studies, many different genes (50 to 100 specific genes and 20 to 40 chromosomal loci) associated with ASD were examined.2 The gene deletion mutations, amino acid substitutions, loss-of-function and gain-of function mutations may result in autism spectrum disorders. Additionally, ASD is commonly related to mutations in sex chromosomes. According to literature, the effects of X chromosome mutations on ASD were mainly focused on by the authors of previous published reports since the abnormalities involving X chromosome mutations were recognized in the genotype of autism patients. However, recent studies suggested that Y chromosome abnormalities play also a significant role for ASD.

In this literature review, the relation between XYY syndrome and ASD was described in order to determine the association between Y chromosome abnormalities and ASD.

The Effects of Neuroligin Coding Genes on ASD

Recent studies indicated that neuroligin coding genes, such as neuroligin-3 and neuroligin-4 are associated with ASD. Some s...

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.... Science 2012;338(6103):128-132.

5. Yan J, Feng J, Schroer R, Li W, Skinner C, Schwartz CE, Cook EH, Jr., Sommer SS. Analysis of the neuroligin 4Y gene in patients with autism. Psychiatr Genet 2008;18(4):204-7.

6. Kuczynski E, Bertola DR, Castro CI, Koiffmann CP, Kim CA. Infantile autism and 47,XYY karyotype. Arq Neuropsiquiatr 2009;67(3a):717-8.

7. Visootsak J, Graham JM, Jr. Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY. Dev Disabil Res Rev 2009;15(4):328-32.

8. Ross JL, Zeger MP, Kushner H, Zinn AR, Roeltgen DP. An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome. Dev Disabil Res Rev 2009;15(4):309-17.

9. Stochholm K, Juul S, Gravholt CH. Diagnosis and mortality in 47,XYY persons: a registry study. Orphanet J Rare Dis 2010;5:15.
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