Whole Exome Sequencing Identifies Three Novel Mutations in ANTXR1 in Families with GAPO Syndrome

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dc.contributor.authorBayram, Yavuz
dc.contributor.authorPehlivan, Davut
dc.contributor.authorKaraca, Ender
dc.contributor.authorGambin, Tomasz
dc.contributor.authorJhangiani, Shalini N.
dc.contributor.authorErdin, Serkan
dc.contributor.authorGonzaga-Jauregui, Claudia
dc.date.accessioned2020-03-26T18:58:47Z
dc.date.available2020-03-26T18:58:47Z
dc.date.issued2014
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractGAPO syndrome (OMIM#230740) is the acronym for growth retardation, alopecia, pseudoanodontia, and optic atrophy. About 35 cases have been reported, making it among one of the rarest recessive conditions. Distinctive craniofacial features including alopecia, rarefaction of eyebrows and eyelashes, frontal bossing, high forehead, mid-facial hypoplasia, hypertelorism, and thickened eyelids and lips make GAPO syndrome a clinically recognizable phenotype. While this genomic study was in progress mutations in ANTXR1 were reported to cause GAPO syndrome. In our study we performed whole exome sequencing (WES) for five affected individuals from three Turkish kindreds segregating the GAPO trait. Exome sequencing analysis identified three novel homozygous mutations including; one frameshift (c.1220_1221insT; p.Ala408Cysfs*2), one splice site (c.411A> G; p.Gln137Gln), and one non-synonymous (c.1150G> A; p.Gly384Ser) mutation in the ANTXR1 gene. Our studies expand the allelic spectrum in this rare condition and potentially provide insight into the role of ANTXR1 in the regulation of the extracellular matrix. (C) 2014 Wiley Periodicals, Inc.en_US
dc.description.sponsorshipUnited States National Human Genome Research Institute/National Heart Blood and Lung Institute [U54HG006542]en_US
dc.description.sponsorshipGrant sponsor: United States National Human Genome Research Institute/National Heart Blood and Lung Institute; Grant number: U54HG006542.en_US
dc.identifier.doi10.1002/ajmg.a.36678en_US
dc.identifier.endpage2334en_US
dc.identifier.issn1552-4825en_US
dc.identifier.issn1552-4833en_US
dc.identifier.issue9en_US
dc.identifier.pmid25045128en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage2328en_US
dc.identifier.urihttps://dx.doi.org/10.1002/ajmg.a.36678
dc.identifier.urihttps://hdl.handle.net/20.500.12395/31286
dc.identifier.volume164en_US
dc.identifier.wosWOS:000340669200027en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWILEYen_US
dc.relation.ispartofAMERICAN JOURNAL OF MEDICAL GENETICS PART Aen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectGAPO syndromeen_US
dc.subjectANTXR1en_US
dc.subjectwhole exome sequencingen_US
dc.titleWhole Exome Sequencing Identifies Three Novel Mutations in ANTXR1 in Families with GAPO Syndromeen_US
dc.typeArticleen_US

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