title: Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome.
abstract: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two clinically distinct neurodevelopmental disorders caused by absence of paternally or maternally expressed imprinted genes on chr15q11.2-q13.3. Three mechanisms are known to be involved in the pathogenesis: microdeletions, uniparental disomy (UPD) and imprinting defects. Both disorders are difficult to be definitely diagnosed at early age if no available molecular cytogenetic tests. In this study, we identified 5 AS patients with the maternal deletion and 26 PWS patients with paternal deletion on chr15q11-q13 by using an innovative multiplex-fluorescent-labeled short tandem repeats (STRs) assay based on linkage analysis, and validated by the methylation-specific PCR and array comparative genomic hybridization techniques. More interesting, one of these PWS patients was confirmed as maternal uniparental isodisomy by the STR linkage analysis. The phenotypic and genotypic characteristics of these individuals were also presented. Our results indicate that the new linkage analysis is much faster and easier for large-scale screening deletion and uniparental disomy, thus providing a valuable method for early diagnosis of PWS/AS patients, which is critical for genetic diagnosis, management and improvement of prognosis.
authors: Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Ji'nan 250022, China.
authors: Kaihui
authors: K
authors: Zhang
authors: Medical Genetic Center, Guangdong Women and Children's Hospital of Guangzhou Medical University, Guangzhou 511442, China.
authors: Shu
authors: S
authors: Liu
authors: Pediatric Health Care Institute, Qilu Children's Hospital of Shandong University, Ji'nan 250022, China.
authors: Bing
authors: B
authors: Feng
authors: Rehabilitation Center, Qilu Children's Hospital of Shandong University, Ji'nan 250022, China.
authors: Yali
authors: Y
authors: Yang
authors: Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Ji'nan 250022, China.
authors: Haiyan
authors: H
authors: Zhang
authors: Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Ji'nan 250022, China.
authors: Rui
authors: R
authors: Dong
authors: Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Ji'nan 250022, China.
authors: Yi
authors: Y
authors: Liu
authors: Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Ji'nan 250022, China.
authors: Zhongtao
authors: Z
authors: Gai
mesh_terms: D000293:Adolescent; D000328:Adult; D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D055028:Comparative Genomic Hybridization / Q000379:methods*; D019175:DNA Methylation / Q000235:genetics; D005260:Female; D018392:Genomic Imprinting / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics*; D024182:Uniparental Disomy / Q000235:genetics