RNA-seq of human lens with cataracts, alopecia, & microdontia

The genetic daignosis of a pediatric patient with primary symptoms bilateral cataracts, alopecia and microdontia could not be obtained through standard genetic tests. We sought to obtain the diagnosis of this rare syndrome through RNA-seq of the cataract lens against an age-matched donor lens. Lens transcriptome of pediatric patient was generated by RNA-seq technology using Illumina HiSeq 2500.

一例以双侧白内障、脱发及小牙症为主要临床表现的儿科患者，无法通过标准遗传学检测获得明确的遗传学诊断。本研究旨在以年龄匹配的供体晶状体为对照，对该患者的白内障晶状体进行RNA测序（RNA-seq），以明确该罕见综合征的诊断。该儿科患者的晶状体转录组（transcriptome）通过采用Illumina HiSeq 2500测序平台的RNA测序技术构建得到。