Realm of Revertant Mosaicism Expanding

Marcel F. Jonkman; Anna M. G. Pasmooij

doi:10.1038/jid.2011.445

Realm of Revertant Mosaicism Expanding

Marcel F. Jonkman^*, Anna M. G. Pasmooij

^*Corresponding author voor dit werk

Translational Immunology Groningen (TRIGR)

Onderzoeksoutput › Academic › peer review

14 Citaten (Scopus)

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In this issue, Lai-Cheong et al. report a patient with Kindler syndrome who showed revertant mosaicism: a patch of normal-looking skin attributable to a reverse mutation. The molecular basis of the reverted patch appeared to be the deletion of a duplicated cytosine, thus restoring the reading frame of FERMT1 transcripts. This finding further pushes the frontier of revertant mosaicism, a phenomenon of spontaneous gene repair, which can be seen with the naked eye in skin.

Originele taal-2	English
Pagina's (van-tot)	514-516
Aantal pagina's	3
Tijdschrift	Journal of Investigative Dermatology
Volume	132
Nummer van het tijdschrift	3
DOI's	https://doi.org/10.1038/jid.2011.445
Status	Published - mrt.-2012

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title = "Realm of Revertant Mosaicism Expanding",

abstract = "In this issue, Lai-Cheong et al. report a patient with Kindler syndrome who showed revertant mosaicism: a patch of normal-looking skin attributable to a reverse mutation. The molecular basis of the reverted patch appeared to be the deletion of a duplicated cytosine, thus restoring the reading frame of FERMT1 transcripts. This finding further pushes the frontier of revertant mosaicism, a phenomenon of spontaneous gene repair, which can be seen with the naked eye in skin.",

keywords = "JUNCTIONAL EPIDERMOLYSIS-BULLOSA, KINDLER SYNDROME, MUTATIONS, REVERSION",

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N2 - In this issue, Lai-Cheong et al. report a patient with Kindler syndrome who showed revertant mosaicism: a patch of normal-looking skin attributable to a reverse mutation. The molecular basis of the reverted patch appeared to be the deletion of a duplicated cytosine, thus restoring the reading frame of FERMT1 transcripts. This finding further pushes the frontier of revertant mosaicism, a phenomenon of spontaneous gene repair, which can be seen with the naked eye in skin.

AB - In this issue, Lai-Cheong et al. report a patient with Kindler syndrome who showed revertant mosaicism: a patch of normal-looking skin attributable to a reverse mutation. The molecular basis of the reverted patch appeared to be the deletion of a duplicated cytosine, thus restoring the reading frame of FERMT1 transcripts. This finding further pushes the frontier of revertant mosaicism, a phenomenon of spontaneous gene repair, which can be seen with the naked eye in skin.

KW - JUNCTIONAL EPIDERMOLYSIS-BULLOSA

KW - KINDLER SYNDROME

KW - MUTATIONS

KW - REVERSION

U2 - 10.1038/jid.2011.445

DO - 10.1038/jid.2011.445

M3 - Editorial

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ER -

Realm of Revertant Mosaicism Expanding

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