期刊
PSYCHIATRIC GENETICS
卷 21, 期 4, 页码 208-211出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/YPG.0b013e328341e069
关键词
22q13.3 deletion syndrome; autism spectrum disorder; CpG island; mental retardation; Shank3; synapse
资金
- Ministry of Education, Culture, Sports and Science and Technology of Japan
- Ministry of Health, Labor and Welfare of Japan
- Grants-in-Aid for Scientific Research [23791207] Funding Source: KAKEN
The 22q13.3 deletion syndrome is characterized by a significant delay in language development, mental retardation, hypotonia, and autistic features. Cumulative evidence has shown that haploinsufficiency of the SHANK3 gene is a major cause of the neurological symptoms of the 22q13.3 deletion syndrome. Shank3, a multidomain protein containing the SH3 and PDZ domains, is thought to play an important role in the formation and function of synapses in the developing brain. In this study, we analyzed the SHANK3 gene in 128 autistic patients with manifestations similar to those seen in the 22q13.3 deletion syndrome. The results showed a 6-amino acid deletion upstream of the SH3 domain, a missense variant (arginine to histidine at amino acid position 656) in the PDZ domain, and the insertion or deletion of a repeated 10-bp GC sequence located 9-bp downstream from the 3' end of exon 11. None of these variants was found in 228 controls. Psychiatr Genet 21:208-211 (C) 2011 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.
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