Robert S. Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, NorthShore-LIJ, Manhasset, NY 11030, USA.
Hum Mol Genet. 2013 May 15;22(10):2097-104. doi: 10.1093/hmg/ddt059. Epub 2013 Feb 12.
Absolute pitch (AP) and synesthesia are two uncommon cognitive traits that reflect increased neuronal connectivity and have been anecdotally reported to occur together in an individual. Here we systematically evaluate the occurrence of synesthesia in a population of 768 subjects with documented AP. Out of these 768 subjects, 151 (20.1%) reported synesthesia, most commonly with color. These self-reports of synesthesia were validated in a subset of 21 study subjects, using an established methodology. We further carried out combined linkage analysis of 53 multiplex families with AP and 36 multiplex families with synesthesia. We observed a peak NPL LOD = 4.68 on chromosome 6q, as well as evidence of linkage on chromosome 2, using a dominant model. These data establish the close phenotypic and genetic relationship between AP and synesthesia. The chromosome 6 linkage region contains 73 genes; several leading candidate genes involved in neurodevelopment were investigated by exon resequencing. However, further studies will be required to definitively establish the identity of the causative gene(s) in the region.
绝对音高 (AP) 和联觉是两种罕见的认知特征，反映了神经元连接的增加，并被传闻在个体中同时发生。在这里，我们系统地评估了在有记录的 AP 的 768 名受试者人群中发生联觉的情况。在这 768 名受试者中，有 151 名（20.1%）报告了联觉，最常见的是颜色联觉。我们使用既定的方法，在 21 名研究受试者的子集中验证了这些联觉的自我报告。我们进一步对 53 个具有 AP 的多态性家庭和 36 个具有联觉的多态性家庭进行了联合连锁分析。我们观察到在染色体 6q 上的最大 NPL LOD = 4.68，以及使用显性模型在染色体 2 上的连锁证据。这些数据确立了 AP 和联觉之间密切的表型和遗传关系。染色体 6 的连锁区域包含 73 个基因；通过外显子重测序研究了几个涉及神经发育的主要候选基因。然而，需要进一步的研究来确定该区域内致病基因的确切身份。
