Identification of a Novel KIF11 Variant p.(Leu804Thrfs Ter13) in a Case with Isolated Microcephaly

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dc.authoridGürkan, Hakan/0000-0002-8967-6124
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorGuler, Hazal Sezginer
dc.contributor.authorZhuri, Drenushe
dc.contributor.authorEker, Damla
dc.contributor.authorGurkan, Hakan
dc.date.accessioned2024-06-12T11:07:07Z
dc.date.available2024-06-12T11:07:07Z
dc.date.issued2022
dc.departmentTrakya Üniversitesien_US
dc.description.abstractMicrocephaly is a rare neurological condition, and it is characterized by a smaller head than other children of the same age and sex. Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MLCRD) is a syndrome with a varying spectrum that occurs as a result of variants of KIF11 gene. A 3-year-old girl was presented to our clinic with microcephaly; she had no motor or growth retardation except microcephaly. After obtaining a normal karyotype and microarray result, Trusight One-Expanded Panel analysis showed NM_004523.4 (KIF11): c. 2409dupA (p. Leu804Thrfs Ter13) heterozygous pathogenic novel variant. Patients who have KIF11 mutation often also have different clinical features; in our case, the motor development is consistent with its peers and has a history of prenatal and postnatal microcephaly. Microcephaly can be caused by a variety of genetic mutations. In our case, firstly we identify the association of a novel de novo KIF11 gene duplication variant related to isolated microcephaly.en_US
dc.identifier.doi10.4103/jhnps.jhnps_14_22
dc.identifier.endpage115en_US
dc.identifier.issn2347-8128
dc.identifier.issue1en_US
dc.identifier.scopus2-s2.0-85139915562en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage112en_US
dc.identifier.urihttps://doi.org/10.4103/jhnps.jhnps_14_22
dc.identifier.urihttps://hdl.handle.net/20.500.14551/21908
dc.identifier.volume10en_US
dc.identifier.wosWOS:000923980800004en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherWolters Kluwer Medknow Publicationsen_US
dc.relation.ispartofJournal Of Head & Neck Physicians And Surgeonsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectIsolated Microcephalyen_US
dc.subjectKIF11en_US
dc.subjectMicrocephalyen_US
dc.subjectNext Generation Sequencingen_US
dc.subjectNovel Varianten_US
dc.subjectLymphedemaen_US
dc.titleIdentification of a Novel KIF11 Variant p.(Leu804Thrfs Ter13) in a Case with Isolated Microcephalyen_US
dc.typeArticleen_US

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