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

被引:0
作者
Ipek, Rojan [1 ]
Cavdartepe, Busra Eser [2 ]
Hazar, Leyla [3 ]
机构
[1] Dicle Univ, Med Fac, Dept Pediat Neurol, Diyarbakir, Turkiye
[2] Konya City Hosp, Dept Med Genet, Konya, Turkiye
[3] Dicle Univ, Dept Ophthalmol, Med Fac, Diyarbakir, Turkiye
关键词
Vici Syndrome; Genetic; Frameshift Variant; CORPUS-CALLOSUM; AUTOPHAGY; MUTATION; AGENESIS; ALBINISM;
D O I
10.5812/ijp-147040
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
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.
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页数:6
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