Clinical and genetic features of L1 syndrome patients: Definition of two novel mutations

Basit Öğe Kaydı
dc.contributor.authorIsik, Esra
dc.contributor.authorOnay, Huseyin
dc.contributor.authorAtik, Tahir
dc.contributor.authorAkgun, Bilcag
dc.contributor.authorCogulu, Ozgur
dc.contributor.authorÖzkınay, Ferda
dc.date.accessioned2019-10-27T10:03:06Z
dc.date.available2019-10-27T10:03:06Z
dc.date.issued2018
dc.departmentEge Üniversitesien_US
dc.description.abstractL1 syndrome is a rare X linked recessive disorder caused bygene mutations in the L1 cell adhesion molecule (L1CAM), and characterized by hydrocephalus, intellectual disability, adducted thumbs and spasticity of the legs. The gene encodes a protein which plays an important role in neuronal development. Two unrelated L1 syndrome cases, with global developmental delay and hydrocephalus, were referred to pediatric genetics subdivision for genetic counseling. Bilateral adducted thumbs and spasticity in the lower extremities were also observed in both patients. Molecular analysis revealed two novel hemizygous mutations in the patients: a deletion mutation (c.749delG; p.Ser250Thrfs*51) and a splicing mutation (c.3166 + 1G > A). To conclude; in male patients with intellectual disability and hydrocephalus, where adducted thumbs are present, L1 syndrome should be considered.en_US
dc.identifier.doi10.1016/j.clineuro.2018.06.007en_US
dc.identifier.endpage23en_US
dc.identifier.issn0303-8467
dc.identifier.issn1872-6968
dc.identifier.pmid29960101en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage20en_US
dc.identifier.urihttps://doi.org/10.1016/j.clineuro.2018.06.007
dc.identifier.urihttps://hdl.handle.net/11454/30070
dc.identifier.volume172en_US
dc.identifier.wosWOS:000442980000003en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevier Science Bven_US
dc.relation.ispartofClinical Neurology and Neurosurgeryen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectL1 syndromeen_US
dc.subjectL1CAMen_US
dc.subjectHydrocephalusen_US
dc.subjectAdducted thumbsen_US
dc.titleClinical and genetic features of L1 syndrome patients: Definition of two novel mutationsen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu