array-based fmr1 sequencing and deletion analysis in patients with a fragile x syndrome–like phenotype基于数组的fmr1排序和删除分析患者的脆性x症状表型.pdfVIP

Array-Based FMR1 Sequencing and Deletion Analysis in Patients with a Fragile X Syndrome–Like Phenotype 1 1 2 3 4 5 Stephen C. Collins , Brad Coffee , Paul J. Benke , Elizabeth Berry-Kravis , Fred Gilbert , Ben Oostra , 5 1 1 1,6 Dicky Halley , Michael E. Zwick , David J. Cutler , Stephen T. Warren * 1 Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, United States of America, 2 Joe DiMaggio Children’s Hospital, Hollywood, Florida, United States of America, 3 Departments of Pediatrics and Neurological Sciences, Rush University Medical Center, Chicago, Illinois, United States of America, 4 Department of Pediatrics, Weill Cornell Medical College, New York, New York, United States of America, 5 Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands, 6 Departments of Pediatrics and Biochemistry, Emory University School of Medicine, Atlanta, Georgia, United States of America Abstract Background: Fragile X syndrome (FXS) is caused by loss of function mutations in the FMR1 gene. Trinucleotide CGG-repeat expansions, resulting in FMR1 gene silencing, are the most common mutations observed at this locus. Even though the repeat expansion mutation is a functional null mutation, few conventional mutations have been identified at this locus, largely due to the clinical laboratory focus on the repeat tract. Methodology/Principal Findings: To more thoroughly evaluate the frequency of conventional mutations in FXS-like patients, we used an array-based method to sequence FMR1 i