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

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dc.contributor.authorsGuo, Long; Elcioglu, Nursel H.; Wang, Zheng; Demirkol, Yasemin K.; Isguven, Pinar; Matsumoto, Naomichi; Nishimura, Gen; Miyake, Noriko; Ikegawa, Shiro
dc.date.accessioned2022-04-25T00:11:13Z
dc.date.available2022-04-25T00:11:13Z
dc.date.issued2017
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.identifier.doi10.1038/hgv.2017.40
dc.identifier.eissn2054-345X
dc.identifier.pubmed28983407
dc.identifier.urihttps://hdl.handle.net/11424/263863
dc.identifier.wosWOS:000518009400038
dc.languageeng
dc.publisherNATURE PUBLISHING GROUP
dc.relation.ispartofHUMAN GENOME VARIATION
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectGENE
dc.subjectDYSPLASIA
dc.subjectDOMINANT
dc.subjectFAMILY
dc.titleNovel and recurrent COL11A1 and COL2A1 mutations in the Marshall-Stickler syndrome spectrum
dc.typereport
dspace.entity.typePublication
local.avesis.id654bad3d-e035-458a-82e5-f488d51008c3
local.import.packageSS39
local.indexed.atWOS
local.journal.articlenumber17040
local.journal.numberofpages4
oaire.citation.titleHUMAN GENOME VARIATION
oaire.citation.volume4

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