Homozygous SLC4A11 mutation in a large Irish CHED2 pedigree

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dc.contributor.authorHand, Collette K.
dc.contributor.authorMcGuire, Mairide
dc.contributor.authorParfrey, Nollaig A.
dc.contributor.authorMurphy, Conor C.
dc.contributor.funderHospital Saturday Fund, Irelanden
dc.date.accessioned2022-12-09T16:11:03Z
dc.date.available2022-12-09T16:11:03Z
dc.date.issued2016-04-08
dc.description.abstractBackground: Congenital hereditary endothelial dystrophy (CHED) is a genetic disorder of corneal endothelial cells resulting in corneal clouding and visual impairment. Autosomal dominant (CHED1) and autosomal recessive (CHED2) forms have been reported and map to distinct loci on chromosome 20. CHED2 is caused by mutations in the SLC4A11 gene which encodes a membrane transporter protein. Materials and methods: Members of a large CHED2 family were recruited for clinical and genetic studies. Genomic DNA was sequenced for the exons and intron-exon boundaries of the SLC4A11 gene. Results: Twelve family members were recruited, of which eight were diagnosed with CHED. A homozygous SLC4A11 mutation (Leu843Pro) was detected in the eight patients; a single copy of the mutation was present in three unaffected carriers. Conclusions: A missense SLC4A11 mutation (Leu843Pro) is responsible for CHED2 in this family; this is the first report of this mutation in a homozygous state.en
dc.description.statusPeer revieweden
dc.description.versionAccepted Versionen
dc.format.mimetypeapplication/pdfen
dc.identifier.citationHand, C.K., McGuire, M., Parfrey, N.A. and Murphy, C.C. (2017) ‘Homozygous SLC4A11 mutation in a large Irish CHED2 pedigree’, Ophthalmic Genetics, 38(2), pp. 148–151. https://doi.org/10.3109/13816810.2016.1151901en
dc.identifier.doi10.3109/13816810.2016.1151901en
dc.identifier.endpage151en
dc.identifier.issn1381-6810
dc.identifier.issued2en
dc.identifier.journaltitleOphthalmic Geneticsen
dc.identifier.startpage141en
dc.identifier.urihttps://hdl.handle.net/10468/13917
dc.identifier.volume38en
dc.language.isoenen
dc.publisherTaylor & Francisen
dc.relation.urihttps://doi.org/10.3109/13816810.2016.1151901
dc.rights© 2017 Taylor & Francis. This is an Accepted Manuscript of an article published by Taylor & Francis in Ophthalmic Genetics on 08 April 2016 available at: http://www.tandfonline.com/10.3109/13816810.2016.1151901en
dc.subjectCongenital hereditary endothelial dystrophyen
dc.subjectCorneal dystrophy and perceptive deafnessen
dc.subjectFuchs endothelial dystrophyen
dc.subjectHarboyan syndromeen
dc.subjectSLC4A11 geneen
dc.subjectIrelanden
dc.titleHomozygous SLC4A11 mutation in a large Irish CHED2 pedigreeen
dc.typeArticle (peer-reviewed)en
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