Autopsy findings in EPG5‐related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus

Aggarwal, Shagun; Tandon, Ashwani; Bhowmik, Aneek Das; Dalal, Ashwin

doi:10.1002/ajmg.a.38575

Cited by 5 publications

(7 citation statements)

References 8 publications

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“…In addition to these phenotypic features, cardiomyopathy, developmental delay, microcephaly, and failure to thrive were described as typical consequences (Byrne et al., ; Chiyonobu et al., ; del Campo et al., ). Since the first description, more than 40 families have been published with Vici syndrome (VICIS), who were compatible with an autosomal recessive transmission and have extended the variable clinical spectrum with myopathy, epilepsy, elevated aminotransferases, thymus aplasia, thrombocytopenic purpura, sensorineural hearing loss, and renal tubular acidosis (Aggarwal, Tandon, Bhowmik, & Dalal, ; Al‐Owain et al., ; Alzahrani, Alghamdi, & Waggass, ; Balasubramaniam et al., ; Byrne et al., ; Chiyonobu et al., ; Cullup et al., ; del Campo et al., ; Demiral, Sen, Esener, Ceylaner, & Tekedereli, ; El‐Kersh, Jungbluth, Gringras, & Senthilvel, ; Hedberg‐Oldfors, Darin, & Oldfors, ; Hori et al., ; Huenerberg et al., ; Maillard et al., ; McClelland et al., ; Miyata et al., ; Ozkale, Erol, Gümüs, Ozkale, & Alehan, ; Rogers, Aufmuth, & Monesson, ; Said, Soler, & Sewry, ; Shimada et al., ; Waldrop et al., ). The prognosis was found to be poor with a median survival of 42 months (Byrne, Dionisi‐Vici, Smith, Gautel, & Jungbluth, ).…”

Section: Introductionmentioning

confidence: 99%

EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome

Vojcek

Keszthelyi

Jávorszky

et al. 2019

Annals of Human Genetics

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We report on a sibling pair with the EPG5 c.1007A > G mutation who developed a severe form of Vici syndrome and died in infancy. The c.1007A > G (p.Gln336Arg) mutation, affecting the penultimate nucleotide and the splicing of exon 2 is the most common mutation of EPG5 and is typically associated with a less devastating prognosis: cardiomyopathy and cataract are less frequent consequences and the median survival time is 78 months compared to an overall median survival of 42 months. The less severe course related to c.1007A > G was formerly explained by the preserved canonical splicing in 25% of the transcripts. In contrast, we found the messenger RNA encoded by the c.1007A > G allele to be absent, explaining the severe course of the disease. This family provides another example of phenotypic variability related to a differential splicing. K E Y W O R D Sdifferential splicing, Gln336Arg, phenotype variability, Vici syndrome 80 wileyonlinelibrary.com/journal/ahg Ann Hum Genet. 2020;84:80-86.

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Section: Introductionmentioning

confidence: 99%

EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome

Vojcek

Keszthelyi

Jávorszky

et al. 2019

Annals of Human Genetics

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“…This contrasts with imaging findings (absent gyrification) in Touraine et al [ 26 ]. A fourth study by Aggarwal et al [ 27 ] reported abnormal cortical lamination on histological sections, whereas the cortex was reported to be normal on foetal MRI.…”

Section: Resultsmentioning

confidence: 99%

Neuropathology of genetically defined malformations of cortical development—A systematic literature review

Brock

Cools

Jansen

2021

Neuropathology Appl Neurobio

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“…To our knowledge, five children with Vici syndrome have been examined antenatally using foetal US and MRI,13–16 including our case (table 1). Previous studies have not described foetal cardiomyopathy except for one autopsy report 14.…”

Section: Discussionmentioning

confidence: 99%

Perinatal clinical course of Vici syndrome associated with novelEPG5variants: unique cardiac changes and difficulty with foetal diagnosis

Shima,

Kinjo,

Park

et al. 2024

BMJ Case Rep

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Vici syndrome is a genetic disorder involving autophagy dysfunction caused by biallelic pathogenic variants in ectopic P-granules 5 autophagy tethering factor (EPG5). We report the perinatal clinical course of a neonate with Vici syndrome with a unique cardiac presentation. Foetal ultrasonography (US) detected right ventricular hypertrophy, hypoplastic left ventricle and narrowing of the foramen ovale, which were alleviated after birth. Agenesis of the corpus callosum and cerebellar hypoplasia were missed antenatally. After delivery, the patient was clinically diagnosed with Vici syndrome and two novel pathogenic mutations were detected inEPG5. The T-cell receptor repertoire was selectively skewed in the Vβ2 family. Immunological prophylaxis and tube feeding were introduced. Early diagnosis helps parents accept their child’s prognosis and decide on a care plan. However, US has limited potential to detect clinical phenotypes associated with Vici syndrome. Foetal MRI may detect the characteristic abnormalities and contribute to antenatal diagnosis.

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Autopsy findings in EPG5‐related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus

Cited by 5 publications

References 8 publications

EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome

EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome

Neuropathology of genetically defined malformations of cortical development—A systematic literature review

Perinatal clinical course of Vici syndrome associated with novelEPG5variants: unique cardiac changes and difficulty with foetal diagnosis

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