Research press release


Nature Genetics

New genes involved in autism and intellectual disability

自閉症スペクトラム障害(ASD)と知的障害の患者のSHANK2遺伝子に変異が生じていることを報告する論文が、Nature Genetics (電子版)に掲載される。この知見は、シナプス構造の欠損とASDにつながりがあるとする考え方をさらに裏付けている。もう1つの研究論文では、4つの家系で、IQSEC2遺伝子の変異が知的障害の原因になっていることが明らかにされた。


G Rappoldらは、知的障害の患者とASDの患者(合計580人)の解析を行い、血縁関係にない患者数人において、SHANK2遺伝子の変異を同定した。また、J Geczらの研究では、4つの家系で、IQSEC2遺伝子の変異が知的障害の原因になっていることがわかった。

Mutations in the gene SHANK2 are reported in individuals with autism spectrum disorder and intellectual disability, as reported in this week in Nature Genetics. The findings strengthen the link between defects in synaptic structures and autism. In a second study mutations in the gene IQSEC2 are shown to cause intellectual disability in four separate families.

Autism is a pervasive neurodevelopmental disorder that occurs in approximately 1 in 110 children in the United States, with tens of millions affected individuals worldwide. Individuals with autism display deficits in social interaction and communication skills and also exhibit repetitive or stereotypic patterns of behavior. Several genes involved in the synapse―a junction between two neurons where signals are transmitted―have previously been associated with autism, suggesting intact synaptic structures are important for typical development of language, social and cognitive skills. Intellectual disability, or mental retardation, is a clinically distinct, more common disorder affecting 1 in 50 in the general population.

Gudrun Rappold and colleagues analyzed 580 patients with intellectual disabilities or autism and identified mutations in SHANK2 in several unrelated individuals. In another study, Jozef Gecz and colleagues show that mutations in IQSEC2 causes intellectual disability in four separate families.

doi: 10.1038/ng.588


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