Document Detail

Copy number variants on the X chromosome in women with primary ovarian insufficiency.
MedLine Citation:
PMID:  21316664     Owner:  NLM     Status:  Publisher    
OBJECTIVE: To investigate whether submicroscopic copy number variants (CNVs) on the X chromosome can be identified in women with primary ovarian insufficiency (POI), defined as spontaneous secondary amenorrhea before 40 years of age accompanied by follicle-stimulating hormone levels above 40 IU/L on at least two occasions. DESIGN: Analysis of intensity data of single nucleotide polymorphism (SNP) probes generated by genomewide Illumina 370k CNV BeadChips, followed by the validation of identified loci using a custom designed ultra-high-density comparative genomic hybridization array containing 48,325 probes evenly distributed over the X chromosome. SETTING: Multicenter genetic cohort study in the Netherlands. PATIENT(S): 108 Dutch Caucasian women with POI, 97 of whom passed quality control, who had a normal karyogram and absent fragile X premutation, and 235 healthy Dutch Caucasian women as controls. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Amount and locus of X chromosomal microdeletions or duplications. RESULT(S): Intensity differences between SNP probes identify microdeletions and duplications. The initial analysis identified an overrepresentation of deletions in POI patients. Moreover, CNVs in two genes on the Xq21.3 locus (i.e., PCDH11X and TGIF2LX) were statistically significantly associated with the POI phenotype. Mean size of identified CNVs was 262 kb. However, in the validation study the identified putative Xq21.3 deletions samples did not show deviations in intensities in consecutive probes. CONCLUSION(S): X chromosomal submicroscopic CNVs do not play a major role in Caucasian POI patients. We provide guidelines on how submicroscopic cytogenetic POI research should be conducted.
Erik A H Knauff; Hylke M Blauw; Peter L Pearson; Klaas Kok; Cisca Wijmenga; Jan H Veldink; Leonard H van den Berg; Philippe Bouchard; Bart C J M Fauser; Lude Franke;
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-2-11
Journal Detail:
Title:  Fertility and sterility     Volume:  -     ISSN:  1556-5653     ISO Abbreviation:  -     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2011-2-14     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0372772     Medline TA:  Fertil Steril     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.
Department of Reproductive Medicine and Gynecology, University Medical Center Utrecht, Utrecht, the Netherlands.
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