Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall-Stickler syndrome spectrum

Simple item page
dc.contributor.authorGuo, Long
dc.contributor.authorElcioglu, Nursel H.
dc.contributor.authorWang, Zheng
dc.contributor.authorDemirkol, Yasemin K.
dc.contributor.authorIsguven, Pinar
dc.contributor.authorMatsumoto, Naomichi
dc.contributor.authorIkegawa, Shiro
dc.date.accessioned2026-02-06T18:43:32Z
dc.date.issued2017
dc.departmentDoğu Akdeniz Üniversitesi
dc.description.abstractMarshall-Stickler syndrome represents a spectrum of inherited connective tissue disorders affecting the ocular, auditory, and skeletal systems. The syndrome is caused by mutations in the COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 genes. In this study, we examined four Turkish families with Marshall-Stickler syndrome using whole-exome sequencing and identified one COL2A1 mutation and three COL11A1 mutations. Two of the COL11A1 mutations were novel. Our findings expand our knowledge of the COL11A1 mutational spectrum that causes Marshall-Stickler syndrome.
dc.description.sponsorshipJapan Agency for Medical Research and Development (AMED) [14525125]; Japan Society for the Promotion of Science (WAKATE B) [17K16710]; RIKEN-MOST; Grants-in-Aid for Scientific Research [17K16710, 16H05357] Funding Source: KAKEN
dc.description.sponsorshipWe thank the patients and their families for their participation in the study. This study was supported in part by research grants from the Japan Agency for Medical Research and Development (AMED) (contract No. 14525125), the Japan Society for the Promotion of Science (WAKATE B, No. 17K16710) and RIKEN-MOST.
dc.identifier.doi10.1038/hgv.2017.40
dc.identifier.issn2054-345X
dc.identifier.orcid0000-0002-9660-6941
dc.identifier.pmid28983407
dc.identifier.scopus2-s2.0-85047644751
dc.identifier.scopusqualityQ4
dc.identifier.urihttps://doi.org/10.1038/hgv.2017.40
dc.identifier.urihttps://hdl.handle.net/11129/13669
dc.identifier.volume4
dc.identifier.wosWOS:000518009400038
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakPubMed
dc.indekslendigikaynakScopus
dc.language.isoen
dc.publisherNature Publishing Group
dc.relation.ispartofHuman Genome Variation
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WoS_20260204
dc.subjectGene
dc.subjectDysplasia
dc.subjectDominant
dc.subjectFamily
dc.titleNovel and recurrent COL11A1 and COL2A1 mutations in the Marshall-Stickler syndrome spectrum
dc.typeData Paper

Files

Collections

WoS Indexed Publications Collection
PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu