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

作者：Silva Isabela M W; Rosenfeld Jill; Antoniuk Sergio A; Raskin Salmo; Sotomaior Vanessa S^*

来源：Gene, 2014, 542(1): 83-86.

DOI：10.1016/j.gene.2014.02.058

• Autism spectrum disorder
• 12p13.33 microdeletion
• Array comparative genomic hybridization
• ERC1
• Neurodevelopmental delay

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, L00574538, NINJ2, RAD52, SLC6Al2, 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.

• 出版日期2014-5-25