High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families

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High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families

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作者：Laila Y. AlAyadhi^a ; ^{ayadh2@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Jamil A. Hashmi^b ; ^{hashmi.ja@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Muhammad Iqbal^c ; ^{saadhafsa@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Alia M. Albalawi^b ; ^{a.albalawi2277@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Mohammad I. Samman^b ; ^d ; ^{drmsamman@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Nadra E. Elamin^a ; ^{nadraelyass@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Shahid Bashir^a ; ^e ; ^{sbashir10@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Sulman Basit^b ; ^{sbasit.phd@gmail.com" class="auth_mail" title="E-mail the corresponding author}
关键词：ACRD ; autism chromosome rearrangement database ; AutDB ; autism database ; CNVs ; copy number variants ; DGVs ; database of genomic variants ; GABA ; gamma-aminobutyric acid ; qPCR ; quantitative real-time PCR ; SNPs ; single nucleotide polymorphisms
刊名：Neuroscience
出版年：2016
出版时间：17 December 2016
年：2016
卷：339
期：Complete
页码：561-570
全文大小：1504 K

文摘

•: Novel and recurrent CNVs in 11 multiplex families with Autism were identified.
•: A novel loss of copy number CNV affecting intron 2 of CLSTN2 gene was detected in 2 autistic families.
•: CLSTN2 gene encodes synaptic protein calsyntenin 2.
•: CLSTN2 is expressed exclusively in the brain.
•: Multiple evidence shows that calsyntenins are essential for learning.

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