Common Chromosomal Abnormalities Associated With Autism

Five other gene disorder that contributes to autism are (1) EN2 (Engrailed 2) involved in cerebellum development. (2) GABR (Gamma Amino Butyric Acid Receptor) regulates brain cell migration. (3) OXTR (Oxytocin Receptor) participating in the response to stress and social skills. (4) RELN (Reelin) involved in neuronal migration in the developing brain. (5) SLC6A4, a serotonin transporter gene† (Johnson, Giarelli, Lewis, Rice, 2013). As a result of all the researches done several chromosomal loci have been shown to be linked to Autistic Spectrum disorder including those at 2q24-2q31, 7q22-7q31, 7q34-7q36, and 17q11-17q21. Structural chromosomal changes involving deletions and duplication at 7q11, 15q11-15q13, 17p11.2, 22q11.2, and 22q13 have also been associated with forms of autism. However, the most common chromosomal abnormalities currently associated with autism include the fragile X mutation, other sex chromosome abnormalities, and abnormalities of 15q11-q13. â€Å"Evidenc e has shown that duplications of 15q11–q13 have led to higher risks of Autism Spectrum Disorder and developmental and cognitive deï ¬ cits† (Flashner, Russo, Boileau, Leong, Gallicano, 2013). Chromosome 15q11-q13.1 region is subject to genomic imprinting, which is an epigenetic process that results in monoallelic gene expression. Duplications lead to autism and are usually maternal in origin. Deletion of the maternal allele of chromosome 15q11-q13 cause Angelman syndrome (AS) a neurodevelopmental disorderShow MoreRelatedAutism Spectrum Disorder ( Asd )909 Words   |  4 PagesAutism spectrum disorder (ASD) refers to a group of neurodevelopmental disorders that is characterized by abnormalities relating to social, behavioral, cognitive and language skills. 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