A Case Report of a New Variant Associated with Vici Syndrome in aTurkish Infant; EPG5 Frameshift Variant

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dc.contributor.authorIpek, Rojan
dc.contributor.authorCavdartepe, Busra Eser
dc.contributor.authorHazar, Leyla
dc.date.accessioned2025-02-22T14:08:36Z
dc.date.available2025-02-22T14:08:36Z
dc.date.issued2025
dc.departmentDicle Üniversitesien_US
dc.description.abstractIntroduction: Vici syndrome is a congenital multisystem disorder characterized primarily by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency, and oculocutaneous hypopigmentation, along with additional newly recognized findings. Autosomal recessive variants in the EPG5 gene, which encodes ectopic P-granules autophagy protein 5 (EPG5), a key regulator of autophagy, are known genetic causes of this syndrome. The aim of this case report is to present a novel disease-causing variant identified through EPG5 gene sequence analysis. Case Presentation: We report on a 2-month-old Turkish girl who presented with developmental delay, bilateral congenital cataracts, microcephaly, hypotonia, hypertrophic cardiomyopathy, hypopigmented skin lesions, and agenesis of the corpus callosum. Genetic analysis revealed a homozygous c.7504delC (p.G1n2502Argfs*4) frameshift variant in the EPG5 gene, which has not been previously documented. Conclusions: Adding a new variant to the literature is crucial, as it highlights the feasibility of reaching an accurate diagnosis through well-conducted physical examination findings in patients with early developmental delay. This case also raises awareness about such rare diseases. Moreover, recognizing new mutations is critical for understanding atypical findings, prognosis, treatment responses, and the genetic risks for other family members.en_US
dc.identifier.doi10.5812/ijp-147040
dc.identifier.issn2008-2142
dc.identifier.issn2008-2150
dc.identifier.issue1en_US
dc.identifier.scopus2-s2.0-85212269955en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.urihttps://doi.org/10.5812/ijp-147040
dc.identifier.urihttps://hdl.handle.net/11468/29494
dc.identifier.volume35en_US
dc.identifier.wosWOS:001381263600001en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.language.isoenen_US
dc.publisherBrieflandsen_US
dc.relation.ispartofIranian Journal of Pediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmzKA_WOS_20250222
dc.subjectVici Syndromeen_US
dc.subjectGeneticen_US
dc.subjectFrameshift Varianten_US
dc.titleA Case Report of a New Variant Associated with Vici Syndrome in aTurkish Infant; EPG5 Frameshift Varianten_US
dc.typeArticleen_US

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