2017年12月9日
A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism
Human Genome Variation
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- 巻
- 4
- 号
- 開始ページ
- 17001
- 終了ページ
- 17001
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1038/hgv.2017.1
- 出版者・発行元
- Springer Nature
A 4-year-old boy with severe intellectual disability (ID) and characteristics of autism was found to have a de novo 1.9-Mb microdeletion in 7q31.33q32.1, in which LRRC4, GRM8, and 11 other genes were included. GRM8 is associated with attention deficit hyperactivity disorder. LRRC4 is related to synaptic cell adhesion molecules, some of which are associated with autism. The deletion of LRRC4 may be responsible for the severe ID and characteristics of autism observed in the present patient.
- リンク情報
- ID情報
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- DOI : 10.1038/hgv.2017.1
- ORCIDのPut Code : 30235942
- PubMed ID : 28224041
- PubMed Central 記事ID : PMC5298938