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https://hdl.handle.net/11499/47314
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DC Field | Value | Language |
---|---|---|
dc.contributor.author | Mutlu Albayrak, Hatice | - |
dc.contributor.author | Elçioğlu, Nursel H. | - |
dc.contributor.author | Yeter, Burcu | - |
dc.contributor.author | Karaer, Kadri | - |
dc.date.accessioned | 2023-01-09T21:23:54Z | - |
dc.date.available | 2023-01-09T21:23:54Z | - |
dc.date.issued | 2021 | - |
dc.identifier.issn | 1552-4825 | - |
dc.identifier.uri | https://doi.org/10.1002/ajmg.a.62234 | - |
dc.identifier.uri | https://hdl.handle.net/11499/47314 | - |
dc.description.abstract | Warburg-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.sponsorship | HMA, 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.iso | en | en_US |
dc.publisher | John Wiley and Sons Inc | en_US |
dc.relation.ispartof | American Journal of Medical Genetics, Part A | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | congenital cataract | en_US |
dc.subject | corpus callosum hypo/agenesia | en_US |
dc.subject | RAB3GAP1 | en_US |
dc.subject | Warburg-Micro syndrome | en_US |
dc.subject | Article | en_US |
dc.subject | autosomal recessive disorder | en_US |
dc.subject | bone malformation | en_US |
dc.subject | brain radiography | en_US |
dc.subject | child | en_US |
dc.subject | child growth | en_US |
dc.subject | clinical article | en_US |
dc.subject | clinical feature | en_US |
dc.subject | congenital cataract | en_US |
dc.subject | consanguineous marriage | en_US |
dc.subject | corpus callosum agenesis | en_US |
dc.subject | correlation analysis | en_US |
dc.subject | craniofacial malformation | en_US |
dc.subject | disease association | en_US |
dc.subject | eye examination | en_US |
dc.subject | female | en_US |
dc.subject | gastrointestinal disease | en_US |
dc.subject | gene | en_US |
dc.subject | gene deletion | en_US |
dc.subject | gene duplication | en_US |
dc.subject | gene identification | en_US |
dc.subject | genetic analysis | en_US |
dc.subject | genotype | en_US |
dc.subject | homozygote | en_US |
dc.subject | human | en_US |
dc.subject | infant | en_US |
dc.subject | male | en_US |
dc.subject | neurologic examination | en_US |
dc.subject | nuclear magnetic resonance imaging | en_US |
dc.subject | patient referral | en_US |
dc.subject | phenotype | en_US |
dc.subject | preschool child | en_US |
dc.subject | RAB3GAP1 gene | en_US |
dc.subject | syndrome | en_US |
dc.subject | Syrian | en_US |
dc.subject | Turkey (republic) | en_US |
dc.subject | Warburg Micro syndrome type | en_US |
dc.subject | allele | en_US |
dc.subject | cataract | en_US |
dc.subject | cornea | en_US |
dc.subject | facies | en_US |
dc.subject | genetic association study | en_US |
dc.subject | genetic predisposition | en_US |
dc.subject | genetics | en_US |
dc.subject | hypogonadism | en_US |
dc.subject | intellectual impairment | en_US |
dc.subject | microcephaly | en_US |
dc.subject | multiple malformation syndrome | en_US |
dc.subject | mutation | en_US |
dc.subject | newborn | en_US |
dc.subject | optic nerve atrophy | en_US |
dc.subject | visual system examination | en_US |
dc.subject | Rab protein | en_US |
dc.subject | RAB3GAP1 protein, human | en_US |
dc.subject | Abnormalities, Multiple | en_US |
dc.subject | Alleles | en_US |
dc.subject | Cataract | en_US |
dc.subject | Child, Preschool | en_US |
dc.subject | Cornea | en_US |
dc.subject | Diagnostic Techniques, Ophthalmological | en_US |
dc.subject | Facies | en_US |
dc.subject | Female | en_US |
dc.subject | Genetic Association Studies | en_US |
dc.subject | Genetic Predisposition to Disease | en_US |
dc.subject | Homozygote | en_US |
dc.subject | Humans | en_US |
dc.subject | Hypogonadism | en_US |
dc.subject | Infant | en_US |
dc.subject | Infant, Newborn | en_US |
dc.subject | Intellectual Disability | en_US |
dc.subject | Magnetic Resonance Imaging | en_US |
dc.subject | Male | en_US |
dc.subject | Microcephaly | en_US |
dc.subject | Mutation | en_US |
dc.subject | Optic Atrophy | en_US |
dc.subject | Phenotype | en_US |
dc.subject | rab3 GTP-Binding Proteins | en_US |
dc.title | From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients | en_US |
dc.type | Article | en_US |
dc.identifier.volume | 185 | en_US |
dc.identifier.issue | 8 | en_US |
dc.identifier.startpage | 2325 | en_US |
dc.identifier.endpage | 2334 | en_US |
dc.identifier.doi | 10.1002/ajmg.a.62234 | - |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.authorscopusid | 57192270096 | - |
dc.authorscopusid | 7004600129 | - |
dc.authorscopusid | 57223158487 | - |
dc.authorscopusid | 23995504600 | - |
dc.identifier.pmid | 33951304 | en_US |
dc.identifier.scopus | 2-s2.0-85105099535 | en_US |
dc.identifier.scopusquality | Q2 | - |
item.cerifentitytype | Publications | - |
item.languageiso639-1 | en | - |
item.grantfulltext | none | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.fulltext | No Fulltext | - |
item.openairetype | Article | - |
crisitem.author.dept | 14.02. Internal Medicine | - |
Appears in Collections: | PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu |
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