Precise microdeletion detection of Prader-Willi Syndrome with array comparative genome hybridization.
OBJECTIVE
Prader-Willi Sydrome (PWS) is a human disorder related to genomic imprinting defect on 15q11-13. 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, C12orf2, 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.
Shao
Xin-Yu
XY
Department of Endocrinology and Metabolism, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai Diabetes Institute, Shanghai Clinical Center for Diabetes, Shanghai, China.
Zhang
Rong
R
Hu
Cheng
C
Wang
Cong-Rong
CR
Lu
Jing-Yi
JY
Qin
Wen
W
Yu
Hao-Yong
HY
Bao
Yu-Qian
YQ
Cheng
Xing-Bo
XB
Jia
Wei-Ping
WP
D001483:Base Sequence; D002872:Chromosome Deletion; D017931:DNA Primers; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009693:Nucleic Acid Hybridization; D011218:Prader-Willi Syndrome / Q000235:genetics*
D017931:DNA Primers