Clinical variability in two sisters with keutel syndrome due to a homozygous mutation in MGP gene

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dc.contributor.authorTüysüz B.
dc.contributor.authorÇinar B.
dc.contributor.authorLaçiner S.
dc.contributor.authorOnay H.
dc.contributor.authorMittaz-Crettol L.
dc.date.accessioned2019-10-26T21:26:20Z
dc.date.available2019-10-26T21:26:20Z
dc.date.issued2015
dc.departmentEge Üniversitesien_US
dc.description.abstractClinical variability in two sisters with Keutel syndrome due to a homozygous mutation in MGP gene: Keutel syndrome (KS) is an autosomal recessive disease characterised by abnormal cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenosis, hearing loss and midface retrusion. KS is caused by homozygous mutations in MGP, a gene encoding Matrix Gla protein which acts as a calcification inhibitor in extracellular matrix. We present two Turkish sisters (22 and 13 years old) who had abnormal cartilage calcification, brachytelephalangism, congenital heart defect and chronic asthmatic bronchitis. The patients were homozygous for c.62-2A>G (IVS1-2 A>G) mutation in MGP gene. Abnormal cartilage calcification, brachytelephalangism and midfacial retrusion are the hallmarks of KS. It was observed that the younger sister had striking cartilaginous calcifications, midfacial retrusion and severe brachytelephalangism while her older sister had mild costal cartilaginous calcifications and brachytelephalangism without any midfacial retrusion. Intrafamiliar clinical variability for KS has not been described previously.en_US
dc.identifier.endpage194en_US
dc.identifier.issn1015-8146
dc.identifier.issue2en_US
dc.identifier.pmid26349188en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage187en_US
dc.identifier.urihttps://hdl.handle.net/11454/17337
dc.identifier.volume26en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherEditions Medecine et Hygieneen_US
dc.relation.ispartofGenetic Counselingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectClinical variabilityen_US
dc.subjectKeutel syndromeen_US
dc.subjectMGP geneen_US
dc.titleClinical variability in two sisters with keutel syndrome due to a homozygous mutation in MGP geneen_US
dc.typeArticleen_US

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