Year: 2013
Type: dissertation
Abstract: In a continuously developing society we are still confronted with intellectual disability \n(ID) and autism around us with quite a high prevalence. 1 in 88 children is diagnosed \nwith autism spectrum disorder (ASD), while 2-3% of the general population is affected \nby intellectual disability. These two conditions are often comorbid, with \napproximately 75% of people with autism having a non-verbal Intelligence Quotient \n(IQ) in the intellectual disability range (below 70). The causes of both ID and ASD are \nnumerous, either genetic or environmental, but the leading inherited single-gene cause \nof both afflictions if known to be the Fragile X Syndrome (FXS), with approximately \n10% of intellectually disabled and 2-6% of autistic individuals being diagnosed with \nFXS. This syndrome was initially named Martin-Bell syndrome, after the two doctors \nwho first described an X-linked intellectual disability in multiple male members of a \nfamily in 1943. Later it was linked to a “fragile site” on the X chromosome, and the \nname was changed into “fragile X syndrome” in 1970. Only in 1991 the gene \nresponsible for FXS, the fragile X mental retardation 1 gene (FMR1), was discovered, \nand from that moment on research flourished. The apparent cause of FXS is a CGG \ntrinucleotide repeat longer than 200 CGG units, which leads to hypermethylation and \nconsequently silencing of the FMR1 gene, resulting in the absence of FMR1’s protein \nproduct, the fragile X mental retardation protein (FMRP).
Author: Andreea Pop
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
Award: G1024908669
OpenAlex ID: W2153178246