MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes

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dc.contributor.authorSirmaci, Asli
dc.contributor.authorWalsh, Tom
dc.contributor.authorAkay, Hatice
dc.contributor.authorSpiliopoulos, Michail
dc.contributor.authorSakalar, Yildirim Bayezit
dc.contributor.authorHasanefendioglu-Bayrak, Aylin
dc.contributor.authorDuman, Duygu
dc.date.accessioned2024-04-24T16:10:44Z
dc.date.available2024-04-24T16:10:44Z
dc.date.issued2010
dc.departmentDicle Üniversitesien_US
dc.description.abstractDistinctive facial features consisting of hypertelorism, telecanthus, blepharophimosis blepharoptosis, epicanthus inversus, periumbil seal defects, and skeletal anomalies are seen in autosomal recessive Carnevale, Malpuech, Michels, and oculo skeletal abdominal (OSA) syndromes The gene or genes responsible for these syndromes were heretofore unknown We report on three individuals from two consanguineous Turkish families with findings characteristic of these syndromes including facial dysmorphism periumbilical depression mixed hearing loss, radioulnar synostosis and coccygeal appendage Homozygosity mapping yielded an autozygous region on chromosome 3q27 in both families In one family, whole exome sequencing revealed a missense mutation, MASP1 c 2059G>A (p G687R) that cosegregated with the phenotype In the second family, Sanger sequencing of MASP1 revealed a nonsense mutation, MASP1 c 870G>A (p W290X) that also cosegregated with the phenotype Neither mutation was found in 192 Turkish controls or 1200 controls of various other ancestries MASP1 encodes mannan binding lectin senne protease 1 The two mutations occur in a MASP1 isoform that has been reported to process IGFBP 5 thereby playing a critical role in insulin growth factor availability during craniofacial and muscle development These results implicate mutations of MASP1 as the cause of a human malformation syndrome and demonstrate the involvement of MASP1 in facial, umbilical, and ear development during the embryonic perioden_US
dc.description.sponsorshipNational Institutes of Health [R01DC009645, R01DC005641, R01GM083897]en_US
dc.description.sponsorshipThe authors are grateful to Fatos Yalcinkaya and Suat Fitoz at Ankara University School of Medicine for clinical and radiological evaluation and to Ming K L e and Anne M Thornton at the University of Washington for advice and assistance This work was supported in part by National Institutes of Health grants R01DC009645, R01DC005641, and R01GM083897, with a supplement from the American Recovery and Reinvestment Acten_US
dc.identifier.doi10.1016/j.ajhg.2010.09.018
dc.identifier.endpage686en_US
dc.identifier.issn0002-9297
dc.identifier.issn1537-6605
dc.identifier.issue5en_US
dc.identifier.pmid21035106en_US
dc.identifier.scopus2-s2.0-78249275859en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage679en_US
dc.identifier.urihttps://doi.org/10.1016/j.ajhg.2010.09.018
dc.identifier.urihttps://hdl.handle.net/11468/15071
dc.identifier.volume87en_US
dc.identifier.wosWOS:000284668400014en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherCell Pressen_US
dc.relation.ispartofAmerican Journal of Human Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject[No Keyword]en_US
dc.titleMASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromesen_US
dc.typeArticleen_US

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