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Discordance for retinitis pigmentosa in two monozygotic twin pairs

LIEVE BERGHMANS UGent, Regina Halfeld Furtado de Mendonça, Frauke Coppieters UGent, Otacílio de Oliveira Maia Júnior, Walter Yukihiko Takahashi, Willy Lissens, Elfride De Baere UGent and Bart Leroy UGent (2011) RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES. 31(6). p.1164-1169
abstract
Background: Retinitis pigmentosa (RP) is a group of genetically heterogeneous diseases with progressive degeneration of the retina. The condition can be inherited as an autosomal dominant, autosomal recessive, and X-linked trait. Methods: We report on two female twin pairs. One twin of each pair is affected with RP, the other twin is unaffected, both clinically and functionally. Molecular analysis in both twins included zygosity determination, arrayed primer extension chip analysis for autosomal recessive and dominant RP, sequencing of the entire RPGR gene, and analysis of X-chromosome inactivation status. Results: Both unrelated twin pairs were genetically identical. Of the potential pathogenetic mechanisms, skewed X-inactivation was excluded on leukocytes. Autosomal recessive RP and autosomal dominant RP arrayed primer extension chip analysis result was completely normal, excluding known mutations in known genes as the cause of disease in the affected twins. Sequencing excluded mutations in RPGR. A postzygotic recessive or dominant genetic mutation of an RP gene is not impossible. A postfertilization error as a potential cause of uniparental isodisomy is unlikely albeit not entirely impossible. Conclusion: The authors report on the second and third unrelated identical twin pair discordant for RP. The exact cause of the condition and the explanation of the clinical discordance remain elusive.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
identical twin, lyonization, discordance, monozygotic twin, phenotypical discordance, postzygotic gene mutation, retinal dystrophy, retinitis pigmentosa, uniparental isodisomy, X-chromosome inactivation, X-CHROMOSOME-INACTIVATION, UNIPARENTAL DISOMY, ISODISOMY, MUTATIONS, PATTERNS, GENES
journal title
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
Retin.-J. Retin. Vitr. Dis.
volume
31
issue
6
pages
1164 - 1169
Web of Science type
Article
Web of Science id
000291009400022
JCR category
OPHTHALMOLOGY
JCR impact factor
2.812 (2011)
JCR rank
11/56 (2011)
JCR quartile
1 (2011)
ISSN
0275-004X
DOI
10.1097/IAE.0b013e3181fbcf2b
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
1196335
handle
http://hdl.handle.net/1854/LU-1196335
date created
2011-03-24 15:13:30
date last changed
2012-04-25 10:30:01
@article{1196335,
  abstract     = {Background: Retinitis pigmentosa (RP) is a group of genetically heterogeneous diseases with progressive degeneration of the retina. The condition can be inherited as an autosomal dominant, autosomal recessive, and X-linked trait. 
Methods: We report on two female twin pairs. One twin of each pair is affected with RP, the other twin is unaffected, both clinically and functionally. Molecular analysis in both twins included zygosity determination, arrayed primer extension chip analysis for autosomal recessive and dominant RP, sequencing of the entire RPGR gene, and analysis of X-chromosome inactivation status. 
Results: Both unrelated twin pairs were genetically identical. Of the potential pathogenetic mechanisms, skewed X-inactivation was excluded on leukocytes. Autosomal recessive RP and autosomal dominant RP arrayed primer extension chip analysis result was completely normal, excluding known mutations in known genes as the cause of disease in the affected twins. Sequencing excluded mutations in RPGR. A postzygotic recessive or dominant genetic mutation of an RP gene is not impossible. A postfertilization error as a potential cause of uniparental isodisomy is unlikely albeit not entirely impossible. 
Conclusion: The authors report on the second and third unrelated identical twin pair discordant for RP. The exact cause of the condition and the explanation of the clinical discordance remain elusive.},
  author       = {BERGHMANS, LIEVE and Halfeld Furtado de Mendon\c{c}a, Regina and Coppieters, Frauke and de Oliveira Maia J{\'u}nior, Otac{\'i}lio and Takahashi, Walter Yukihiko and Lissens, Willy and De Baere, Elfride and Leroy, Bart},
  issn         = {0275-004X},
  journal      = {RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES},
  keyword      = {identical twin,lyonization,discordance,monozygotic twin,phenotypical discordance,postzygotic gene mutation,retinal dystrophy,retinitis pigmentosa,uniparental isodisomy,X-chromosome inactivation,X-CHROMOSOME-INACTIVATION,UNIPARENTAL DISOMY,ISODISOMY,MUTATIONS,PATTERNS,GENES},
  language     = {eng},
  number       = {6},
  pages        = {1164--1169},
  title        = {Discordance for retinitis pigmentosa in two monozygotic twin pairs},
  url          = {http://dx.doi.org/10.1097/IAE.0b013e3181fbcf2b},
  volume       = {31},
  year         = {2011},
}

Chicago
BERGHMANS, LIEVE, Regina Halfeld Furtado de Mendonça, Frauke Coppieters, Otacílio de Oliveira Maia Júnior, Walter Yukihiko Takahashi, Willy Lissens, Elfride De Baere, and Bart Leroy. 2011. “Discordance for Retinitis Pigmentosa in Two Monozygotic Twin Pairs.” Retina-the Journal of Retinal and Vitreous Diseases 31 (6): 1164–1169.
APA
BERGHMANS, LIEVE, Halfeld Furtado de Mendonça, R., Coppieters, F., de Oliveira Maia Júnior, O., Takahashi, W. Y., Lissens, W., De Baere, E., et al. (2011). Discordance for retinitis pigmentosa in two monozygotic twin pairs. RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 31(6), 1164–1169.
Vancouver
1.
BERGHMANS L, Halfeld Furtado de Mendonça R, Coppieters F, de Oliveira Maia Júnior O, Takahashi WY, Lissens W, et al. Discordance for retinitis pigmentosa in two monozygotic twin pairs. RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES. 2011;31(6):1164–9.
MLA
BERGHMANS, LIEVE, Regina Halfeld Furtado de Mendonça, Frauke Coppieters, et al. “Discordance for Retinitis Pigmentosa in Two Monozygotic Twin Pairs.” RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES 31.6 (2011): 1164–1169. Print.