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Article: Spread of X Inactivation on Chromosome 15 is Associated with a More Severe Phenotype in a Girl with an Unbalanced t(X;15) Translocation

TitleSpread of X Inactivation on Chromosome 15 is Associated with a More Severe Phenotype in a Girl with an Unbalanced t(X;15) Translocation
Authors
Issue Date2014
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
Citation
American Journal of Medical Genetics Part A, 2014, v. 164 n. 10, p. 2521-2528 How to Cite?
AbstractWe report on a baby girl with multiple congenital abnormalities, including cleft palate, intrauterine growth restriction, and double outlet right ventricle (DORV) with ventricular septal defect. She had an unbalanced chromosome translocation t (X;15) resulting in monosomy 15pter → p10 and trisomy Xq13.1 → q28. All three copies of Xq encompass the XIST gene. It is known that X chromosome inactivation could spread to the autosome part of an unbalanced translocation involving chromosome X and an autosome. To confirm the spread of X chromosome inactivation on chromosome 15, we evaluate the methylation change by the HumanMethylation450 BeadChip, a whole genome DNA methylation micorarray that includes 15,259 probes spanning 717 genes on chromosome 15. Results showed there was gain in DNA methylation of more than 20% in 586 CpG sites spanning the long arm of chromosome 15. We further examined the hypermethylated CpG sites located in CpG-island promoter, because genes subjected to X chromosome inactivation will have an increase in DNA methylation level in this region. A total of 75 sites representing 24 genes were hypermethylated. Nearly all of these probes are located in region proximal to the breakpoint, from 15q11.2 to 15q21.3 (35Mb) suggesting that X inactivation was spread to the proximal region of 15q. Gain of DNA methylation, especially in the CpG-island promoter, can result in functional inactivation of genes, and therefore could potentially worsen the phenotype of our patient. © 2014 Wiley Periodicals, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/200769
ISSN
2015 Impact Factor: 2.082
2015 SCImago Journal Rankings: 1.115

 

DC FieldValueLanguage
dc.contributor.authorYeung, KS-
dc.contributor.authorChee, WYY-
dc.contributor.authorLuk, HM-
dc.contributor.authorKan, ASY-
dc.contributor.authorTang, MHY-
dc.contributor.authorLau, ETK-
dc.contributor.authorShuen, AY-
dc.contributor.authorLo, IFM-
dc.contributor.authorChan, YK-
dc.contributor.authorChung, BHY-
dc.date.accessioned2014-08-21T07:00:30Z-
dc.date.available2014-08-21T07:00:30Z-
dc.date.issued2014-
dc.identifier.citationAmerican Journal of Medical Genetics Part A, 2014, v. 164 n. 10, p. 2521-2528-
dc.identifier.issn1552-4825-
dc.identifier.urihttp://hdl.handle.net/10722/200769-
dc.description.abstractWe report on a baby girl with multiple congenital abnormalities, including cleft palate, intrauterine growth restriction, and double outlet right ventricle (DORV) with ventricular septal defect. She had an unbalanced chromosome translocation t (X;15) resulting in monosomy 15pter → p10 and trisomy Xq13.1 → q28. All three copies of Xq encompass the XIST gene. It is known that X chromosome inactivation could spread to the autosome part of an unbalanced translocation involving chromosome X and an autosome. To confirm the spread of X chromosome inactivation on chromosome 15, we evaluate the methylation change by the HumanMethylation450 BeadChip, a whole genome DNA methylation micorarray that includes 15,259 probes spanning 717 genes on chromosome 15. Results showed there was gain in DNA methylation of more than 20% in 586 CpG sites spanning the long arm of chromosome 15. We further examined the hypermethylated CpG sites located in CpG-island promoter, because genes subjected to X chromosome inactivation will have an increase in DNA methylation level in this region. A total of 75 sites representing 24 genes were hypermethylated. Nearly all of these probes are located in region proximal to the breakpoint, from 15q11.2 to 15q21.3 (35Mb) suggesting that X inactivation was spread to the proximal region of 15q. Gain of DNA methylation, especially in the CpG-island promoter, can result in functional inactivation of genes, and therefore could potentially worsen the phenotype of our patient. © 2014 Wiley Periodicals, Inc.-
dc.languageeng-
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html-
dc.relation.ispartofAmerican Journal of Medical Genetics Part A-
dc.rightsAmerican Journal of Medical Genetics Part A. Copyright © John Wiley & Sons, Inc.-
dc.titleSpread of X Inactivation on Chromosome 15 is Associated with a More Severe Phenotype in a Girl with an Unbalanced t(X;15) Translocation-
dc.typeArticle-
dc.identifier.emailChee, WYY: yychee13@hku.hk-
dc.identifier.emailLuk, HM: lukhm@hku.hk-
dc.identifier.emailKan, ASY: kansya@hku.hk-
dc.identifier.emailTang, MHY: mhytang@hkucc.hku.hk-
dc.identifier.emailLau, ETK: etklau@hkucc.hku.hk-
dc.identifier.emailChan, YK: ykchanc@hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityTang, MHY=rp01701-
dc.identifier.authorityChan, YK=rp00453-
dc.identifier.authorityChung, BHY=rp00473-
dc.identifier.doi10.1002/ajmg.a.36670-
dc.identifier.pmid25044945-
dc.identifier.hkuros232400-
dc.identifier.volume164-
dc.identifier.issue10-
dc.identifier.spage2521-
dc.identifier.epage2528-
dc.publisher.placeUnited States-

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