携带CHRNA7基因重复个体的认知和行为表型
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.
作者信息
Gillentine M A, Berry L N, Goin-Kochel R P, Ali M A, Ge J, Guffey D, Rosenfeld J A, Hannig V, Bader P, Proud M, Shinawi M, Graham B H, Lin A, Lalani S R, Reynolds J, Chen M, Grebe T, Minard C G, Stankiewicz P, Beaudet A L, Schaaf C P
机构信息
Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Moursund Street, Ste. 1325, Houston, TX, USA.
出版信息
J Autism Dev Disord. 2017 Mar;47(3):549-562. doi: 10.1007/s10803-016-2961-8.
Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and CHRNA7 implicated as a candidate gene. However, the pathogenicity of duplications of CHRNA7 is unclear, as they are found in affected probands as well as in reportedly healthy parents and unaffected control individuals. We evaluated 18 children with microduplications involving CHRNA7, identified by clinical chromosome microarray analysis (CMA). Comprehensive phenotyping revealed high prevalence of developmental delay/intellectual disability, autism spectrum disorder, and attention deficit/hyperactivity disorder. As CHRNA7 duplications are the most common CNVs identified by clinical CMA, this study provides anticipatory guidance for those involved with care of affected individuals.
由于其高度复杂的基因组结构，15号染色体q11q13区域是基因组中最不稳定的区域之一。15q13.3处的低拷贝重复元件促进了复发性拷贝数变异（CNV），其中缺失已被确定为致病性的，而CHRNA7被认为是一个候选基因。然而，CHRNA7重复的致病性尚不清楚，因为在受影响的先证者以及据报道健康的父母和未受影响的对照个体中都发现了它们。我们评估了18名通过临床染色体微阵列分析（CMA）鉴定出的涉及CHRNA7微重复的儿童。综合表型分析显示，发育迟缓/智力残疾、自闭症谱系障碍和注意力缺陷/多动障碍的患病率很高。由于CHRNA7重复是临床CMA鉴定出的最常见的CNV，本研究为参与照顾受影响个体的人员提供了前瞻性指导。
Zotero 插件