A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies

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dc.contributor.authorMajava, M.en
dc.contributor.authorHoornaert, K. P.en
dc.contributor.authorBartholdi, D.en
dc.contributor.authorBouma, M. C.en
dc.contributor.authorBouman, K.en
dc.contributor.authorCarrera, M.en
dc.contributor.authorDevriendt, K.en
dc.contributor.authorHurst, J.en
dc.contributor.authorKitsos, G.en
dc.contributor.authorNiedrist, D.en
dc.contributor.authorPetersen, M. B.en
dc.contributor.authorShears, D.en
dc.contributor.authorStolte-Dijkstra, I.en
dc.contributor.authorVan Hagen, J. M.en
dc.contributor.authorAla-Kokko, L.en
dc.contributor.authorMannikko, M.en
dc.contributor.authorMortier, G. R.en
dc.date.accessioned2015-11-24T19:39:16Z
dc.date.available2015-11-24T19:39:16Z
dc.identifier.issn1552-4825-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/24230
dc.rightsDefault Licence-
dc.subjectAdolescenten
dc.subjectAdulten
dc.subjectChilden
dc.subjectChild, Preschoolen
dc.subjectCollagen Type XI/*geneticsen
dc.subjectFemaleen
dc.subjectGenetic Diseases, Inborn/*diagnosisen
dc.subjectGenetic Testingen
dc.subjectHeterozygoteen
dc.subjectHumansen
dc.subjectInfanten
dc.subjectMaleen
dc.subjectMutationen
dc.subjectPhenotypeen
dc.titleA report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathiesen
heal.abstractA series of 44 unrelated patients in whom COL2A1 screening demonstrated normal results but whose phenotype was nevertheless highly suggestive of either Stickler syndrome (with ocular involvement) or Marshall syndrome were investigated for mutations in the COL11A1 gene. Heterozygous COL11A1 mutations were found in 10 individuals. A splice site alteration (involving introns 47-55) was present in seven cases, with one in intron 50 (c.3816 + 1G > A) occurring in three patients. Two patients had a different deletion, and a missense mutation (Gly1471Asp) was observed in one case. In 4/10 patients the phenotype was classified as Marshall syndrome because of early-onset severe hearing loss and characteristic facial features. These four patients were all heterozygous for a splice site mutation in intron 50. One of these cases had a type 1 vitreous anomaly despite the presence of a COL11A1 mutation. The remaining 6/10 patients had an overlapping Marshall-Stickler phenotype with less pronounced facial features. None of these had a mutation in the hot spot region of intron 50.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.primary10.1002/ajmg.a.31586-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/17236192-
heal.identifier.secondaryhttp://onlinelibrary.wiley.com/store/10.1002/ajmg.a.31586/asset/31586_ftp.pdf?v=1&t=h09p10bk&s=26dd454b644cabbdee9556254d3fbb69fa15eedc-
heal.journalNameAm J Med Genet Aen
heal.journalTypepeer-reviewed-
heal.languageen-
heal.publicationDate2007-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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