Abd Elmaksoud M, Abeesh AA, Pereira C et al (2020) Vici syndrome in an Egyptian infant: case report and differential diagnosis of inherited hypopigmented disorders. Egypt J Med Hum Genet 21:59. https://doi.org/10.1186/s43042-020-00103-2

Article  Google Scholar 

Abidi KT, Kamal NM, Bakkar AA, Almarri S, Abdullah R, Alsufyani M, Alharbi A (2020) Vici syndrome with pathogenic homozygous EPG5 gene mutation: a case report and literature review. Medicine (Baltimore) 99(43):e22302. https://doi.org/10.1097/MD.0000000000022302

Article  PubMed  Google Scholar 

Aggarwal S, Tandon A, Bhowmik AD, Dalal A (2018) Autopsy findings in EPG5-related Vici syndrome with antenatal onset: additional report of focal cortical microdysgenesis in a second trimester fetus. Am J Med Genet A 176(2):499–501. https://doi.org/10.1002/ajmg.a.38575

Al-Owain M, Al-Hashem A, Al-Muhaizea M, Humaidan H, Al-Hindi H, Al-Homoud I, Al-Mogarri I (2010) Vici syndrome associated with unilateral lung hypoplasia and myopathy. Am J Med Genet A 152A(7):1849–1853. https://doi.org/10.1002/ajmg.a.33421

Article  PubMed  Google Scholar 

Alzahrani A, Alghamdi AA, Waggass R (2018) A Saudi infant with Vici syndrome: case report and literature review. Open Access Maced J Med Sci 6(6):1081–1084. https://doi.org/10.3889/oamjms.2018.271

Article  PubMed  PubMed Central  Google Scholar 

Balasubramaniam S, Riley LG, Vasudevan A, Cowley MJ, Gayevskiy V, Sue CM, Edwards C, Edkins E, Junckerstorff R, Kiraly-Borri C, Rowe P, Christodoulou J (2018) EPG5-related Vici syndrome: a primary defect of autophagic regulation with an emerging phenotype overlapping with mitochondrial disorders. JIMD Rep 42:19–29. https://doi.org/10.1007/8904_2017_71

Byrne S, Jansen L, U-King-Im JM et al (2016a) EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain 139(3):765–781. https://doi.org/10.1093/brain/awv393

Article  PubMed  PubMed Central  Google Scholar 

Byrne S, Dionisi-Vici C, Smith L, Gautel M, Jungbluth H (2016b) Vici syndrome: a review. Orphanet J Rare Dis 11:21. https://doi.org/10.1186/s13023-016-0399-x

Article  PubMed  PubMed Central  Google Scholar 

Chorin O, Hirsch Y, Rock R, Salzer Sheelo L, Goldberg Y, Mandel H, Hershkovitz T, Fleischer N, Greenbaum L, Katz U, Barel O, Hamed N, Ben-Zeev B, Greenberger S, Nasser Samra N, Stern Zimmer M, Raas-Rothschild A, Pode-Shakked B (2022) Vici syndrome in Israel: clinical and molecular insights. Front Genet 13:991721. https://doi.org/10.3389/fgene.2022.991721

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, ten Hoedt AE, Rogers RC, Manchester D, Miyata R, Hayashi M et al (2013) Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet 45(1):83–87. https://doi.org/10.1038/ng.2497

Article  CAS  PubMed  Google Scholar 

Demiral E, Sen A, Esener Z, Ceylaner S, Tekedereli I (2018) A rare mutation in the EPG5 gene causes Vici syndrome. Clin Dysmorphol 27(4):145–147. https://doi.org/10.1097/MCD.0000000000000233

Article  PubMed  Google Scholar 

Vici DC, Sabetta G, Gambarara M, Vigevano F, Bertini E, Boldrini R, Parisi SG, Quinti I, Aiuti F, Fiorilli M (1988) Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers. Am J Med Genet 29(1):1–8. https://doi.org/10.1002/ajmg.1320290102

Article  CAS  PubMed  Google Scholar 

Dong L, Li L, Zhang X, Xu X, Han M, Liu S (2021) The first Chinese case of Vici syndrome with novel compound heterozygous sequence variants in EPG5. Int J Mol Med. https://doi.org/10.3892/ijmm.2021.4951

Article  PubMed  PubMed Central  Google Scholar 

Ebrahimi-Fakhari D, Saffari A, Wahlster L, Lu J, Byrne S, Hoffmann GF, Jungbluth H, Sahin M (2016) Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism. Brain 139(Pt 2):317–337. https://doi.org/10.1093/brain/awv371

Article  PubMed  Google Scholar 

Hedberg-Oldfors C, Darin N, Oldfors A (2017) Muscle pathology in Vici syndrome: a case study with a novel mutation in EPG5 and a summary of the literature. Neuromuscul Disord 27(8):771–776. https://doi.org/10.1016/j.nmd.2017.05.005

Hızal M, Yeke B, Yıldız Y, Öztürk A, Gürbüz BB, Coşkun T (2020) Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay. Turk J Pediatr 62(3):474–478. https://doi.org/10.24953/turkjped.2020.03.015

Hori I, Otomo T, Nakashima M, Miya F, Negishi Y, Shiraishi H, Nonoda Y, Magara S, Tohyama J, Okamoto N et al (2017) Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement. Sci Rep 7(1):3552. https://doi.org/10.1038/s41598-017-02840-8

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kane MS, Vilboux T, Wolfe LA, Lee PR, Wang Y, Huddleston KC, Vockley JG, Niederhuber JE, Solomon BD (2016) Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome. Brain 139(9):e52. https://doi.org/10.1093/brain/aww135

Article  PubMed  PubMed Central  Google Scholar 

Mahjoubi F, Shabani S, Khakbazpour S, Khaligh Akhlaghi A (2022) Novel EPG5 mutation associated with Vici syndrome gene. Case Rep Genet 2022:5452944. https://doi.org/10.1155/2022/5452944

Miyata R, Hayashi M, Itoh E (2014) Pathological changes in cardiac muscle and cerebellar cortex in Vici syndrome. Am J Med Genet A 164A(12):3203–3205. https://doi.org/10.1002/ajmg.a.36753

Article  PubMed  Google Scholar 

Mizushima N (2007) Autophagy: process and function. Genes Dev 21(22):2861–2873. https://doi.org/10.1101/gad.1599207

Article  CAS  PubMed  Google Scholar 

Moirangthem A, Mandal K, Ghosh A, Phadke SR (2019) Vici syndrome with a novel mutation in EPG5. Indian Pediatr 56(7):603–605

Rafei MA, Harikrishna B, Al Thihli K, Al-Mujaini AS, Ganesh A (2021) Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate. Ophthalmic Genet 42(6):780–783. https://doi.org/10.1080/13816810.2021.1952621

Rogers RC, Aufmuth B, Monesson S (2011) Vici syndrome: a rare autosomal recessive syndrome with brain anomalies, cardiomyopathy, and severe intellectual disability. Case Rep Genet 2011:421582. https://doi.org/10.1155/2011/421582

Article  PubMed  PubMed Central  Google Scholar 

Shimada S, Hirasawa K, Takeshita A, Nakatsukasa H, Yamamoto-Shimojima K, Imaizumi T, Nagata S, Yamamoto T (2018) Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome. Am J Med Genet A 176(12):2803–2807. https://doi.org/10.1002/ajmg.a.40500

Selamioğlu A, Doğan BY, Balcı MC, Kalaycı T, Karaca M, Ak B, Durmuş A, Körbeyli HK, Gökçay G (2024) Clinical presentation and molecular characterization of 3 patients with Vici syndrome: two novel variants in the EPG5 gene. Mol Syndromol 15(3):257–268. https://doi.org/10.1159/000536069

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tasdemir S, Sahin I, Cayır A, Yuce I, Ceylaner S, Tatar A (2016) Vici syndrome in siblings born to consanguineous parents. Am J Med Genet A 170A(1):220–225. https://doi.org/10.1002/ajmg.a.37398

Article  CAS  PubMed  Google Scholar 

Touraine R, Laquerrière A, Petcu CA, Marguet F, Byrne S, Mein R, Yau S, Mohammed S, Guibaud L, Gautel M, Jungbluth H (2017) Autopsy findings in EPG5-related Vici syndrome with antenatal onset. Am J Med Genet A 173(9):2522–2527. https://doi.org/10.1002/ajmg.a.38342

Vansenne F, Fock JM, Stolte-Dijkstra I, Meiners LC, van den Boogaard MH, Jaeger B, Boven L, Vos YJ, Sinke RJ, Verbeek DS (2022) Phenotypic expansion of EPG5-related Vici syndrome: 15 Dutch patients carrying a founder variant. Eur J Paediatr Neurol 41:91–98. https://doi.org/10.1016/j.ejpn.2022.11.003

Article  CAS  PubMed  Google Scholar 

Vissers LELM, van Nimwegen KJM, Schieving JH, Kamsteeg EJ, Kleefstra T, Yntema HG, Pfundt R, van der Wilt GJ, Krabbenborg L, Brunner HG et al (2017) A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. Genet Med 19(9):1055–1063. https://doi.org/10.1038/gim.2017.1

Article  PubMed  PubMed Central  Google Scholar 

Vojcek E, Keszthelyi TM, Jávorszky E, Balogh L, Tory K (2020) EPG5 c.1007AG mutation in a sibling pair with rapidly progressing Vici syndrome. Ann Hum Genet 84(1):80–86. https://doi.org/10.1111/ahg.12337

Waldrop MA, Gumienny F, Boue D, de Los Reyes E, Shell R, Weiss RB, Flanigan KM (2018) Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype. Am J Med Genet A 176(5):1207–1211. https://doi.org/10.1002/ajmg.a.38676

Article  CAS  PubMed  Google Scholar