Precise Microdeletion Detection of Prader-Willi Syndrome with Array Comparative Genome Hybridization

作     者：XIN-Yu SHAO RONG ZHANG CHENG HU CONG-RONG WANG JING-YI LU WEN QIN HAO-YONG YU YU-QIAN BAO XING-BO CHENG WEI-PING JIA 

作者机构：Department of Endocrinology and Metabolism Shanghai Jiao Tong University Affiliated Sixth People 's Hospital Shanghai Diabetes Institute Shanghai Clinical Center for Diabetes Shanghai 200233 China Department of Endocrinology and Metabolism The First Affiliated Hospital of Soochow University Suzhou 215006 Jiangsu China 

出 版 物：《Biomedical and Environmental Sciences》 (生物医学与环境科学（英文版）)

年 卷 期：2010年第23卷第3期

页      面：194-198页

核心收录：

学科分类：07[理学] 08[工学] 09[农学] 071007[理学-遗传学] 090102[农学-作物遗传育种] 0710[理学-生物学] 0830[工学-环境科学与工程（可授工学、理学、农学学位）] 1004[医学-公共卫生与预防医学(可授医学、理学学位)] 1001[医学-基础医学(可授医学、理学学位)] 080203[工学-机械设计及理论] 0901[农学-作物学] 0802[工学-机械工程] 0836[工学-生物工程] 

基　　金：supported by grants from National 973 Program(2006CB503901) Shanghai Key Laboratory of Diabetes Mellitus(08DZ2230200) Major Program of Shanghai Municipality for Basic Research(08dj 1400601) Program for Outstanding Medical Academic Leader in Shanghai (LJ06010) 

主　　题：Prader-Willi Syndrome array CGH Bisulfite-specific Sequencing DNA Methylation Metacarpophalangeal Joint Rigidity 

摘      要：Objective Prader-Willi Sydrome （PWS） is a human disorder related to genomic imprinting defect on 15ql 1-13. It is characterized by a series of classic features such as hypotonia, hyperphagia, obesity, osteoporosis, typical facial and body dysmorphosis, hypogonadism, mental and behaviour disorders. Our study was designed to precisely detect the microdeletions, which accounts for 65%-70% of the PWS. Methods Physical and laboratory examinations were firstly performed to diagnose PWS clinically, and to discover novel clinical features. Then the patient was screened with bisulfite-specific sequencing and precisely delineated through high-density array CGH. Results With the bisulfite-specific sequencing, the detected CpG island in the PWS critical region was found homozygously hypermethylated. Then with array CGH, a 2.22 Mb type II microdeletion was detected, covering a region from MKRN3, MAGEL2, NDN, PWRN2, PWRN1, Cl2orf2, SNURF-SNRPN, C/D snoRNAs, to distal of UBE3A. Conclusions Array CGH, after the fast screening of Bisulfite-specific sequencing, is a feasible and precise method to detect microdeletions in PWS patients. A novel feature of metacarpophalangeal joint rigidity was also presented, which is the first time reported in PWS.