Research press release


Nature Genetics

Variants causing neuropsychiatric disorders



今回、E Eichlerたちは、29,085人の発達遅延の子どものデータを用いて、こうした大きな領域の欠失と重複、つまりコピー数の変化(CNV)の大規模な地図を作成した。次にEichlerたちは、この情報を発達障害における既知の単一遺伝子変異と統合させて、いずれかのタイプの発達障害を引き起こす可能性のある10個の遺伝子変異を見つけた。特に、SETBP1ZMYND11の2つの遺伝子は、新たに発見された発達障害に関係することが分かった。また、SETBP1遺伝子変異を持つ患者は、知的能力障害と言語機能障害を抱えており、ZMYND11遺伝子変異を持つ患者は、自閉症、攻撃行動、ADHDなどさまざまな特徴を有していた。

A new method for identifying rare genetic disorders has led to the discovery of genetic variants that underlie some neurocognitive disorders. The study is published online this week in Nature Genetics.

Neuropsychiatric disorders, such as developmental delays and intellectual disability disorders, are often associated with very rare genetic alterations. In some cases, these alterations affect only a single gene and are very difficult to identify. Other cases involve the deletion or duplication of large regions of the chromosomes that are easy to find but that affect many genes.

Evan Eichler and colleagues created an extensive map of these deletion or duplication regions, called copy number variants (CNVs), using data from 29,085 children with developmental delays. They integrated this information with known single-gene mutations in developmental disorders, and found ten genetic variants that could lead to one of these disorders. Two genes in particular, SETBP1 and ZMYND11, were found to underlie new disorders. Patients with mutations in SETBP1 were also found to have intellectual disabilities and language impairments. Patients with mutations in ZMYND11 were found to have diverse features, including autism, aggression and ADHD.

doi: 10.1038/ng.3092

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