A 1.5 Mb terminal deletion of 12p associated with autism spectrum disorder

详细信息    查看全文

• 作者：Isabela M.W. Silva^a ; Jill Rosenfeld^b ; Sergio A. Antoniuk^c ; Salmo Raskin^d ; ^e ; Vanessa S. Sotomaior^e ; ^{vanessa.sotomaior@pucpr.br" class="auth_mail}
• 关键词：aCGH ; array CGH ; ADD ; Attention Deficit Disorder ; ADHD ; Attention Deficit Hyperactivity Disorder ; ASD ; Autism Spectrum Disorder ; B4GALNT3 ; beta-1 ; 4-N-acetyl-galactosaminyl transferase 3 ; BAC ; bacterial artificial chromosome ; CARS ; Childhood Autism Rating Scale ; CCDC77 ; coiled-coil domain containing 77 ; CGH ; comparative genomic hybridization ; CNV ; chromosomal copy number variation ; DGV ; Database of Genomic Variants ; DSM-IV ; Diagnostic and Statistical Manual of Mental Disorders ; Fourth Edition ; ER
• 刊名：Gene
• 出版年：25 May, 2014
• 年：2014
• 卷：542
• 期：1
• 页码：83-86
• 全文大小：505 K

文摘

We report a patient with a terminal 12p deletion associated with autism spectrum disorder (ASD). This 12p13.33 deletion is 1.5 Mb in size and encompasses 13 genes (B4GALNT3, CCDC77, ERC1, FBXL14, IQSEC3, KDM5A, LINC00942, LOC574538, NINJ2, RAD52, SLC6A12, SLC6A13 and WNK1). All previous cases reported with partial monosomy of 12p13.33 are associated with neurodevelopmental delay, and we suggest that ERC1, which encodes a regulator of neurotransmitter release, is the best gene candidate contributing to this phenotype as well as to the ASD of our patient.