Group for Advanced Molecular Investigation (NIMA), School of Health and Biosciences, Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba, Paraná, Brazil.
Signature Genomics, PerkinElmer, Inc., Spokane, WA, USA.
Gene. 2014 May 25;542(1):83-6. doi: 10.1016/j.gene.2014.02.058. Epub 2014 Mar 5.
We report a patient with a terminal 12p deletion associated with autism spectrum disorder (ASD). This 12p13.33 deletion is 1.5Mb 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.
我们报告了一例与自闭症谱系障碍（ASD）相关的 12p 末端缺失患者。该 12p13.33 缺失大小为 1.5Mb，包含 13 个基因（B4GALNT3、CCDC77、ERC1、FBXL14、IQSEC3、KDM5A、LINC00942、LOC574538、NINJ2、RAD52、SLC6A12、SLC6A13 和 WNK1）。以前报道的所有 12p13.33 部分单体性缺失病例均与神经发育迟缓有关，我们认为编码神经递质释放调节剂的 ERC1 基因是导致该表型以及我们患者 ASD 的最佳候选基因。
