First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature

American Journal of Medical Genetics, Part A

Volumn 164, Issue 12, 2014, Pages 3170-3175

  Ehmke, Nadja ^a   Parvaneh, Nima ^b,c   Krawitz, Peter ^a,d   Ashrafi, Mahmoud Reza ^b   Karimi, Parviz ^b   Mehdizadeh, Mehrzad ^b   Krüger, Ulrike ^a   Hecht, Jochen ^a,d   Mundlos, Stefan ^a,d   Robinson, Peter N ^a,d,e  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^e FREIE UNIVERSITÄT BERLIN   (Germany)

Author keywords

Agenesis of the corpus callosum, autophagy; Cardiomyopathy; Developmental delay; EPG5; Hypopigmentation; Immunodeficiency; Vici syndrome; Whole exome sequencing

Indexed keywords

ALANINE AMINOTRANSFERASE; CREATINE KINASE; DNA; LACTATE DEHYDROGENASE; EPG5 PROTEIN, HUMAN; PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN ATROPHY; CASE REPORT; CAUSE OF DEATH; COMPUTER ASSISTED TOMOGRAPHY; CORPUS CALLOSUM AGENESIS; ECHOCARDIOGRAPHY; EPG5 GENE; EXOME; EXON; FOLLOW UP; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC IDENTIFICATION; HOMOZYGOTE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; HYPOPIGMENTATION; INFANT; INFECTION; MACULAR DEGENERATION; MALE; NEUTROPENIA; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; PATHOLOGICAL REFLEX; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; RESPIRATORY FAILURE; STOP CODON; VICI SYNDROME; CATARACT; DNA SEQUENCE; FATALITY; GENETICS; IRAN; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; RECESSIVE GENE;

AGENESIS OF CORPUS CALLOSUM; BASE SEQUENCE; CATARACT; EXOME; EXONS; FATAL OUTCOME; GENES, RECESSIVE; HUMANS; INFANT; IRAN; MOLECULAR SEQUENCE DATA; PROTEINS; SEQUENCE ANALYSIS, DNA;

EID: 84911061591     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36772     Document Type: Article

References (31)

1. Aki T, Funakoshi T, Unuma K, Uemura K. 2013. Impairment of autophagy: From hereditary disorder to drug intoxication. Toxicology 311:205-215.
2. 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:1849-1853.
3. Chen J, Ma Z, Jiao X, Fariss R, Kantorow WL, Kantorow M, Pras E, Frydman M, Pras E, Riazuddin S, Riazuddin SA, Hejtmancik JF. 2011. Mutations in FYCO1 cause autosomal-recessive congenital cataracts. Am J Hum Genet 88:827-838.
4. Chiyonobu T, Yoshihara T, Fukushima Y, Yamamoto Y, Tsunamoto K, Nishimura Y, Ishida H, Toda T, Kasubuchi Y. 2002. Sister and brother with Vici syndrome: Agenesis of the corpus callosum, albinism, and recurrent infections. Am J Med Genet 109:61-66.
5. Choi AM, Ryter SW, Levine B. 2013. Autophagy in human health and disease. N Engl J Med 368:651-662.
6. 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, Said E, Soler D, Kroisel PM, Windpassinger C, Filloux FM, Al-Kaabi S, Hertecant J, Del Campo M, Buk S, Bodi I, Goebel HH, Sewry CA, Abbs S, Mohammed S, Josifova D, Gautel M, Jungbluth H. 2013. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet 45:83-87.
7. del Campo M, Hall BD, Aeby A, Nassogne MC, Verloes A, Roche C, Gonzalez C, Sanchez H, Garcia-Alix A, Cabanas F, Escudero RM, Hernandez R, Quero J. 1999. Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance. Am J Med Genet 85:479-485.
8. Di Bartolomeo S, Nazio F, Cecconi F. 2010. The role of autophagy during development in higher eukaryotes. Traffic 11:1280-1289.
9. Dionisi Vici C, 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 29:1-8.
10. Fimia GM, Stoykova A, Romagnoli A, Giunta L, Di Bartolomeo S, Nardacci R, Corazzari M, Fuoco C, Ucar A, Schwartz P, Gruss P, Piacentini M, Chowdhury K, Cecconi F. 2007. Ambra1 regulates autophagy and development of the nervous system. Nature 447:1121-1125.
11. Finocchi A, Angelino G, Cantarutti N, Corbari M, Bevivino E, Cascioli S, Randisi F, Bertini E, Dionisi-Vici C. 2012. Immunodeficiency in Vici syndrome: A heterogeneous phenotype. Am J Med Genet A 158A(2):434-439.
12. Flicek P, Amode MR, Barrell D, Beal K, Billis K, Brent S, Carvalho-Silva D, Clapham P, Coates G, Fitzgerald S, Gil L, Girón CG, Gordon L, Hourlier T, Hunt S, Johnson N, Juettemann T, Kähäri AK, Keenan S, Kulesha E, Martin FJ, Maurel T, McLaren WM, Murphy DN, Nag R, Overduin B, Pignatelli M, Pritchard B, Pritchard E, Riat HS, Ruffier M, Sheppard D, Taylor K, Thormann A, Trevanion SJ, Vullo A, Wilder SP, Wilson M, Zadissa A, Aken BL, Birney E, Cunningham F, Harrow J, Herrero J, Hubbard TJ, Kinsella R, Muffato M, Parker A, Spudich G, Yates A, Zerbino DR, Searle SM. 2014. Ensembl 2014. Nucleic Acids Res 42:D749-755.
13. Heinrich V, Kamphans T, Stange J, Parkhomchuk D, Hecht J, Dickhaus T, Robinson PN, Krawitz PM. 2013. Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects. Genome Med 5:69.
14. Kamphans T, Krawitz PM. 2012. GeneTalk: An expert exchange platform for assessing rare sequence variants in personal genomes. Bioinformatics 28:2515-2516.
15. Köhler S, Schulz MH, Krawitz P, Bauer S, Dolken S, Ott CE, Mundlos C, Horn D, Mundlos S, Robinson PN. 2009. Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am J Hum Genet 85:457-464.
16. Levine B, Mizushima N, Virgin HW. 2011. Autophagy in immunity and inflammation. Nature 469:323-335.
17. Li H. 2011. A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data. Bioinformatics 27:2987-2993.
18. McClelland V, Cullup T, Bodi I, Ruddy D, Buj-Bello A, Biancalana V, Boehm J, Bitoun M, Miller O, Jan W, Menson E, Amaya L, Trounce J, Laporte J, Mohammed S, Sewry C, Raiman J, Jungbluth H. 2010. Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy. Am J Med Genet A 152A:741-747.
19. Miyata R, Hayashi M, Sato H, Sugawara Y, Yui T, Araki S, Hasegawa T, Doi S, Kohyama J. 2007. Sibling cases of Vici syndrome: Sleep abnormalities and complications of renal tubular acidosis. Am J Med Genet A 143:189-194.
20. Mizushima N, Levine B, Cuervo AM, Klionsky DJ. 2008. Autophagy fights disease through cellular self-digestion. Nature 451:1069-1075.
21. Morishita H, Eguchi S, Kimura H, Sasaki J, Sakamaki Y, Robinson ML, Sasaki T, Mizushima N. 2013. Deletion of autophagy-related 5 (Atg5) and Pik3c3 genes in the lens causes cataract independent of programmed organelle degradation. J Biol Chem 288:11436-11447.
22. Nakai A, Yamaguchi O, Takeda T, Higuchi Y, Hikoso S, Taniike M, Omiya S, Mizote I, Matsumura Y, Asahi M, Nishida K, Hori M, Mizushima N, Otsu K. 2007. The role of autophagy in cardiomyocytes in the basal state and in response to hemodynamic stress. Nat Med 13:619-624.
23. Nishino I, Fu J, Tanji K, Yamada T, Shimojo S, Koori T, Mora M, Riggs JE, Oh SJ, Koga Y, Sue CM, Yamamoto A, Murakami N, Shanske S, Byrne E, Bonilla E, Nonaka I, DiMauro S, Hirano M. 2000. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 406:906-910.
24. Ozkale M, Erol I, Gumus A, Ozkale Y, Alehan F. 2012. Vici syndrome associated with sensorineural hearing loss and laryngomalacia. Pediatr Neurol 47:375-378.
25. Robinson PN, Kohler S, Bauer S, Seelow D, Horn D, Mundlos S. 2008. The human phenotype ontology: A tool for annotating and analyzing human hereditary disease. Am J Hum Genet 83:610-615.
26. 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.
27. Said E, Soler D, Sewry C. 2012. Vici syndrome-a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy. Am J Med Genet A 158A:440-444.
28. Taneike M, Yamaguchi O, Nakai A, Hikoso S, Takeda T, Mizote I, Oka T, Tamai T, Oyabu J, Murakawa T, Nishida K, Shimizu T, Hori M, Komuro I, Takuji Shirasawa TS, Mizushima N, Otsu K. 2010. Inhibition of autophagy in the heart induces age-related cardiomyopathy. Autophagy 6:600-606.
29. Tian Y, Li Z, Hu W, Ren H, Tian E, Zhao Y, Lu Q, Huang X, Yang P, Li X., et al., 2010. C. elegans screen identifies autophagy genes specific to multicellular organisms. Cell 141:1042-1055.
30. Wang K, Li M, Hakonarson H. 2010. ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38:e164.
31. Zhao YG, Zhao H, Sun H, Zhang H. 2013. Role of Epg5 in selective neurodegeneration and Vici syndrome. Autophagy 9:1258-1262.