A Case Report of a New Variant Associated with Vici Syndrome in aTurkish Infant; EPG5 Frameshift Variant
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Tarih
2025
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Brieflands
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Introduction: 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.
Açıklama
Anahtar Kelimeler
Vici Syndrome, Genetic, Frameshift Variant
Kaynak
Iranian Journal of Pediatrics
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
Cilt
35
Sayı
1
