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Vici syndrome, also called immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum,[1] is a rare autosomal recessive[2] congenital disorder characterized by albinism, agenesis of the corpus callosum, cataracts, cardiomyopathy, severe psychomotor retardation, seizures, immunodeficiency, and recurrent severe infections.[3]
Genetics
Vici syndrome is believed to be inherited in an autosomal recessive manner.[2] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. Vici syndrome is thought to be caused by mutations in the EPG5 gene. These mutations are recessive in nature.[4] EPG5 is a gene coding for the ectopic P granules protein 5 homolog, which is involved in autophagy. Mutations in this gene have been shown to cause reduced clearance in the autophagosomes, leading to buildups and blockages of autophagic cargo inside the autophagosomes.[5] Regulation of the autophagosomal pathway has been shown to be very defective in individuals suffering from Vici syndrome.[6] Defects in regulatory pathways cause a myriad of genetic diseases, including cancer and many others. A defect in this gene could also disrupt the normal formation of autolysosomes.[7] Mutations in this gene have also been found in some human cancers.[6] Causes of the disease may include nonsense mutations, missense mutations and errors in exon splicing.[6]
Symptoms
Symptoms may be present at birth, or can develop over time. Major symptoms include: problems in eye development (cataracts), skeletal myopathy, cardiomyopathy, constant infections affecting various tissues throughout the body, hypopigmentation and agenesis of the corpus callosum.[4] The disease is not directly detected by the presence of any protein or gene product, but is diagnosed primarily in a clinical setting based on the symptoms presented, using genetic tests such as an MRI, an eye examination, and electrocardiograms. Since the location of the mutated gene is known, genetic analysis (gene sequencing) can be performed to provide further, tangible proof of the disease being the cause of the symptoms experienced. However, if parents are known to have a mutation causing this disease in their genome, the child may be diagnosed before birth.[7] Patients suffering from Vici syndrome usually die very early (i. e. within the first decade of their life). Most are reported to die from either progressive cardiac failure or recurrent severe infections.[4] There are no known cures for Vici syndrome, and all treatments are only designed to manage the symptoms of the disease, not combat the disease itself. Currently, the worldwide prevalence of Vici syndrome is unknown. Up to the present, there have been 20 cases reported worldwide.[7]
Eponym
Vici syndrome was first described by Carlo Dionisi-Vici et al. (Rome, Italy) in an article from 1988 about two brothers with a previously unreported disorder.[3] Since then, a few articles have reported the same disorder, which subsequently obtained the name Vici syndrome.[8][2]
References
- ^ Online Mendelian Inheritance in Man (OMIM): 242840
- ^ a b c Chiyonobu T, Y. T.; Yoshihara, T.; Fukushima, Y.; Yamamoto, Y.; Tsunamoto, K.; Nishimura, Y.; Ishida, H.; Toda, T.; Kasubuchi, Y. (April 2002). "Sister and brother with Vici syndrome: Agenesis of the corpus callosum, albinism, and recurrent infections". American Journal of Medical Genetics. 109 (1): 61–66. doi:10.1002/ajmg.10298. PMID 11932994.
- ^ a b Vici CD, Sabetta G, Gambarara M; et al. (1988). "Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers". Am. J. Med. Genet. 29 (1): 1–8. doi:10.1002/ajmg.1320290102. PMID 3344762.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - ^ a b c "Vici Syndrome". Online Mendelian Inheritance in Man. Retrieved 14 November 2014.
- ^ Uniprot http://www.uniprot.org/uniprot/Q9HCE0#section_comments. Retrieved 13/11/2014.
{{cite web}}: Check date values in:|accessdate=(help); Missing or empty|title=(help) - ^ a b c Cullup, Thomas; Kho, Ay Lin; Dionisi-Vici, Carlo; et al. (2013). "Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy". Nature Genetics. 45 (1): 83–87. doi:10.1038/ng.2497. PMC 4012842. PMID 23222957.
{{cite journal}}: Explicit use of et al. in:|last3=(help) - ^ a b c Jungbluth, Dr. Heinz. "Vici syndrome". Orphanet. Retrieved 14 November 2014.
- ^ del Campo M, Hall BD, Aeby A; et al. (1999). "Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance". Am. J. Med. Genet. 85 (5): 479–485. doi:10.1002/(SICI)1096-8628(19990827)85:5<479::AID-AJMG9>3.0.CO;2-D. PMID 10405446.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link)
Category:Congenital disorders Category:Autosomal recessive disorders Category:Rare diseases Category:Syndromes Category:Genetic disorders with OMIM but no gene
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