Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/47314
Full metadata record
DC FieldValueLanguage
dc.contributor.authorMutlu Albayrak, Hatice-
dc.contributor.authorElçioğlu, Nursel H.-
dc.contributor.authorYeter, Burcu-
dc.contributor.authorKaraer, Kadri-
dc.date.accessioned2023-01-09T21:23:54Z-
dc.date.available2023-01-09T21:23:54Z-
dc.date.issued2021-
dc.identifier.issn1552-4825-
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.62234-
dc.identifier.urihttps://hdl.handle.net/11499/47314-
dc.description.abstractWarburg-Micro syndrome (WARBM) is a rare autosomal recessively inherited neuro-ophthalmologic syndrome. Although WARBM shows genetic heterogeneity, the pathogenic variants in RAB3GAP1 were the most common cause of WARBM. In this study, we aimed to evaluate the detailed clinical and dysmorphic features of seven WARBM1 patients and overview the variant spectrum of RAB3GAP1 in comparison with the literature who were referred due to congenital cataracts. A previously reported homozygous variant (c.2187_2188delGAinsCT) was identified in three of these patients, while the other four had three novel variants (c.251_258delAGAA, c.2606+1G>A, and c.2861_2862dupGC). Congenital cataract and corpus callosum hypo/agenesia are pathognomonic for WARBM, which could be distinguished from other similar syndromes with additional typical dysmorphic facial features. Although there is no known phenotype and genotype correlation in any type of WARBM, RAB3GAP1 gene analysis should be previously requested as the first step of genetic diagnosis in clinically suspicious patients when it is not possible to request a multi-gene panel. © 2021 Wiley Periodicals LLC.en_US
dc.description.sponsorshipHMA, NE, BY, and, KK declare that this is a retrospective study and was not benefitted from any funding resources. Also, all authors have not any conflict of interest.en_US
dc.language.isoenen_US
dc.publisherJohn Wiley and Sons Incen_US
dc.relation.ispartofAmerican Journal of Medical Genetics, Part Aen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectcongenital cataracten_US
dc.subjectcorpus callosum hypo/agenesiaen_US
dc.subjectRAB3GAP1en_US
dc.subjectWarburg-Micro syndromeen_US
dc.subjectArticleen_US
dc.subjectautosomal recessive disorderen_US
dc.subjectbone malformationen_US
dc.subjectbrain radiographyen_US
dc.subjectchilden_US
dc.subjectchild growthen_US
dc.subjectclinical articleen_US
dc.subjectclinical featureen_US
dc.subjectcongenital cataracten_US
dc.subjectconsanguineous marriageen_US
dc.subjectcorpus callosum agenesisen_US
dc.subjectcorrelation analysisen_US
dc.subjectcraniofacial malformationen_US
dc.subjectdisease associationen_US
dc.subjecteye examinationen_US
dc.subjectfemaleen_US
dc.subjectgastrointestinal diseaseen_US
dc.subjectgeneen_US
dc.subjectgene deletionen_US
dc.subjectgene duplicationen_US
dc.subjectgene identificationen_US
dc.subjectgenetic analysisen_US
dc.subjectgenotypeen_US
dc.subjecthomozygoteen_US
dc.subjecthumanen_US
dc.subjectinfanten_US
dc.subjectmaleen_US
dc.subjectneurologic examinationen_US
dc.subjectnuclear magnetic resonance imagingen_US
dc.subjectpatient referralen_US
dc.subjectphenotypeen_US
dc.subjectpreschool childen_US
dc.subjectRAB3GAP1 geneen_US
dc.subjectsyndromeen_US
dc.subjectSyrianen_US
dc.subjectTurkey (republic)en_US
dc.subjectWarburg Micro syndrome typeen_US
dc.subjectalleleen_US
dc.subjectcataracten_US
dc.subjectcorneaen_US
dc.subjectfaciesen_US
dc.subjectgenetic association studyen_US
dc.subjectgenetic predispositionen_US
dc.subjectgeneticsen_US
dc.subjecthypogonadismen_US
dc.subjectintellectual impairmenten_US
dc.subjectmicrocephalyen_US
dc.subjectmultiple malformation syndromeen_US
dc.subjectmutationen_US
dc.subjectnewbornen_US
dc.subjectoptic nerve atrophyen_US
dc.subjectvisual system examinationen_US
dc.subjectRab proteinen_US
dc.subjectRAB3GAP1 protein, humanen_US
dc.subjectAbnormalities, Multipleen_US
dc.subjectAllelesen_US
dc.subjectCataracten_US
dc.subjectChild, Preschoolen_US
dc.subjectCorneaen_US
dc.subjectDiagnostic Techniques, Ophthalmologicalen_US
dc.subjectFaciesen_US
dc.subjectFemaleen_US
dc.subjectGenetic Association Studiesen_US
dc.subjectGenetic Predisposition to Diseaseen_US
dc.subjectHomozygoteen_US
dc.subjectHumansen_US
dc.subjectHypogonadismen_US
dc.subjectInfanten_US
dc.subjectInfant, Newbornen_US
dc.subjectIntellectual Disabilityen_US
dc.subjectMagnetic Resonance Imagingen_US
dc.subjectMaleen_US
dc.subjectMicrocephalyen_US
dc.subjectMutationen_US
dc.subjectOptic Atrophyen_US
dc.subjectPhenotypeen_US
dc.subjectrab3 GTP-Binding Proteinsen_US
dc.titleFrom cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patientsen_US
dc.typeArticleen_US
dc.identifier.volume185en_US
dc.identifier.issue8en_US
dc.identifier.startpage2325en_US
dc.identifier.endpage2334en_US
dc.identifier.doi10.1002/ajmg.a.62234-
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.authorscopusid57192270096-
dc.authorscopusid7004600129-
dc.authorscopusid57223158487-
dc.authorscopusid23995504600-
dc.identifier.pmid33951304en_US
dc.identifier.scopus2-s2.0-85105099535en_US
dc.identifier.scopusqualityQ2-
item.cerifentitytypePublications-
item.languageiso639-1en-
item.grantfulltextnone-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.fulltextNo Fulltext-
item.openairetypeArticle-
crisitem.author.dept14.02. Internal Medicine-
Appears in Collections:PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Tıp Fakültesi Koleksiyonu
Show simple item record



CORE Recommender

SCOPUSTM   
Citations

4
checked on Nov 16, 2024

Page view(s)

58
checked on Aug 24, 2024

Google ScholarTM

Check




Altmetric


Items in GCRIS Repository are protected by copyright, with all rights reserved, unless otherwise indicated.