Vici syndrome: a review

Byrne, Susan; Dionisi‐Vici, Carlo; Smith, Luke; Gautel, Mathias; Jungbluth, Heinz

doi:10.1186/s13023-016-0399-x

Cited by 63 publications

(91 citation statements)

References 37 publications

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“…18 This syndrome is characterized by five principal diagnostic features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and combined immunodeficiency and frequently seen additional features of acquired microcephaly, global developmental delay, failure to thrive and myopathy. 19 Patients 2 and 3 were siblings with a classic Vici phenotype and one pathogenic variant and one likely pathogenic variant, while patient 4 was previously reported due to one pathogenic variant and one variant of unknown significance causing a novel splice site mutation which resulted in a significantly attenuated phenotype, investigated and reported in detail elsewhere. 20 In light of our identification of three Vici patients in a single center, it is very possible that patients with a milder phenotype may be undiagnosed in the broader patient population.…”

Section: Discussionmentioning

confidence: 99%

Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic

et al. 2019

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Next-generation sequencing is a powerful diagnostic tool, yet it has proven inadequate to establish a diagnosis in all cases of congenital hypotonia or childhood onset weakness. We sought to describe the impact of whole exome sequencing (WES), which has only recently become widely available clinically, on molecular diagnosis in the Nationwide Children's Hospital Neuromuscular clinics. We reviewed records of all patients in our clinic with pediatric onset of symptoms who had WES done since 2013. Patients were included if clinical suspicion was high for a neuromuscular disease. Clinical WES was performed in 30 families, representing 31 patients, all of whom were seen for hypotonia, weakness, or gait disturbance. Probands had between 2 and 12 genetic diagnostic tests prior to obtaining WES. A genetic diagnosis was established in 11 families (37%), and in 12 patients (39%), with mutations in 10 different genes. Five of these genes have only been associated with disease since 2013, and were not previously represented on clinically available disease gene panels. Our results confirm the utility of WES in the clinical setting, particularly for genetically heterogeneous syndromes. The availability of WES can provide an end to the diagnostic odyssey for parents and allow for expansion of phenotypes.

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Section: Discussionmentioning

confidence: 99%

Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic

et al. 2019

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“…This report emphasizes that this condition may be hypothesized as a differential diagnosis for isolated ACC. Vici syndrome [OMIM 242840] is a recessively inherited multisystem disorder, characterized by ACC, skin, hair, and retinal hypopigmentation, cataracts, acquired microcephaly, failure to thrive, cardiomyopathy, profound developmental delay, and combined immunodeficiency [Cullup et al, , ; Byrne et al, , ]. Since the original report, approximately 50 cases have been published [del Campo et al, ; Chiyonobu et al, ; Miyata et al, ; Al‐Owain et al, ; McClelland et al, ; Rogers et al, ; Finocchi et al, ; Ozkale et al, ; Said et al, ; Ehmke et al, ; El‐Kersh et al, ; Byrne et al, ; Ebrahimi‐Fakhari et al, ; Huenerberg et al, ; Tasdemir et al, ].…”

Section: Discussionmentioning

confidence: 99%

Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation

Maillard

Cavallin

Piquand

et al. 2017

American J of Med Genetics Pt A

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EPG5-related Vici syndrome is a rare multisystem autosomal recessive disorder characterized by corpus callosum agenesis (ACC), hypopigmentation, cataracts, acquired microcephaly, failure to thrive, cardiomyopathy and profound developmental delay, and immunodeficiency. We report here the first case of prenatally diagnosed Vici syndrome with delayed gyration associated with ACC. Trio based exome sequencing allowed the identification of a compound heterozygous mutation in the EPG5 gene. Our patient subsequently demonstrated severe developmental delay, hypopigmentation, progressive microcephaly, and failure to thrive which led to suspicion of the diagnosis. Her MRI demonstrated ACC with frontoparietal polymicrogyria, severe hypomyelination, and pontocerebellar atrophy. This prenatal presentation of malformations of cortical development in combination with ACC expands the EPG5-related phenotypic spectrum. Our report supports the idea that EPG5-related Vici syndrome is both a neurodevelopmental and neurodegenerative disorder. © 2017 Wiley Periodicals, Inc.

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“…A set of core features defines Vici syndrome clinically: hypopigmentation (skin, hair, retina), agenesis of the corpus callosum, bilateral cataracts, dilated or hypertrophic cardiomyopathy, and combined immunodeficiency . This set of classic features in combination with other common manifestations such as microcephaly, early‐onset developmental delay, and failure to thrive, leads to a genetically confirmed diagnosis with a high sensitivity and specificity . Congenital midline defects such as cleft lip or palate, thymus aplasia, and hypospadias are found in a subset of patients.…”

Section: How Rare Monogenic Diseases Teach Us About Autophagy In Neurmentioning

confidence: 99%

Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy

Teinert

Behne

Wimmer

et al. 2019

J of Inher Metab Disea

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Autophagy is a fundamental and conserved catabolic pathway that mediates the degradation of macromolecules and organelles in lysosomes. Autophagy is particularly important to postmitotic and metabolically active cells such as neurons. The complex architecture of neurons and their long axons pose additional challenges for efficient recycling of cargo. Not surprisingly autophagy is required for normal central nervous system development and function. Several single‐gene disorders of the autophagy pathway have been discovered in recent years giving rise to a novel group of inborn errors of metabolism referred to as congenital disorders of autophagy. While these disorders are heterogeneous, they share several clinical and molecular characteristics including a prominent and progressive involvement of the central nervous system leading to brain malformations, developmental delay, intellectual disability, epilepsy, movement disorders, and cognitive decline. On brain magnetic resonance imaging a predominant involvement of the corpus callosum, the corticospinal tracts and the cerebellum are noted. A storage disease phenotype is present in some diseases, underscoring both clinical and molecular overlaps to lysosomal storage diseases. This review provides an update on the clinical, imaging, and genetic spectrum of congenital disorders of autophagy and highlights the importance of this pathway for neurometabolism and childhood‐onset neurological diseases.

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Vici syndrome: a review

Cited by 63 publications

References 37 publications

Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic

Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic

Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation

Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy

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