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

Biomedical and Environmental Sciences 2010年第3期23卷 194-198页

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 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

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.

关键词： Prader-Willi Syndrome array CGH bisulfite-specific sequencing DNA Methylation Metacarpophalangeal Joint Rigidity

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