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Rare syndrome: Deletion of the 2q23.1 chromosomal region leads to intellectual disability, epilepsy and autism-like symptoms.
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Rare syndrome: Deletion of the 2q23.1 chromosomal region leads to intellectual disability, epilepsy and autism-like symptoms.
MBD5, one of 20genes located in the 2q23.1 chromosomal region, may be responsible for the autism-like syndrome caused by deletions in the region, according to a study published 7 October in the American Journal of Human Genetics1.
Deletions in the 2q23.1 region lead to a rare syndrome characterized by severe intellectual disability, epilepsy and repetitive behavior2 and have been associated with autism3.
In the new study, researchers looked in detail at this region in 65 individuals with 2q23.1 deletion syndrome. All of the deletions overlap with one gene, MBD5, and 14 of them disrupt MBD5 alone, they found.
Individuals with disruptions in MBD5 alone have similar symptoms overall to those of people who have full deletions of the region. These include developmental disability, seizures and language impairment.A few symptoms, such as growth delay, unusual head shape and small hands and feet, are more prevalent in individuals with the full deletion.
Individuals who have deletions either in MBD5 or within the larger region also have autism-like symptoms, described in their medical history or assessed using the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview-Revised, two widely used diagnostic measures of autism.
MBD5 binds to chromatin, a DNA-protein complex that affects gene expression by altering DNA structure. It is a member of the same family as MeCP2, the Rett syndrome gene, and may bind to MEF2C, another autism candidate gene.
To explore the role of MBD5 in autism, the researchers looked at 1,786 individuals with autism and found four deletions that overlap with MBD5. They found no deletions in the 2q23.1 region among 7,848 controls. A harmful variant of MBD5 that disrupts an important part of the protein is also more common in 747 individuals with autism compared with 2,023 controls, they found.
References:
1: Talkowski M.E. et al. Am. J. Hum. Genet. 89, 551-563 (2011) PubMed
2: van Bon B.W. et al. Eur. J. Hum. Genet. 18, 163-170 (2010) PubMed
3: Pinto D. et al. Nature 466, 368-372 (2010) PubMed
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