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Extending the critical regions for mutations in the non-coding gene RNU4ATAC in another patient with Roifman Syndrome.

ABSTRACT: Compound heterozygosity of a previously described pathogenic variant and a second novel nucleotide substitution (NR_023343.1:n.116A>C) affecting a highly conserved nucleotide in the noncoding RNU4ATAC gene could be identified in a patient with overlapping features of Roifman Syndrome. These data extend the spectrum of pathogenic variants in RNU4ATAC.

SUBMITTER: Hallermayr A

PROVIDER: S-EPMC6230649 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature

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Extending the critical regions for mutations in the non-coding gene RNU4ATAC in another patient with Roifman Syndrome.

Hallermayr Ariane A Graf Janine J Koehler Udo U Laner Andreas A Schönfeld Brigitte B Benet-Pagès Anna A Holinski-Feder Elke E

Clinical case reports 20181011 11

Compound heterozygosity of a previously described pathogenic variant and a second novel nucleotide substitution (NR_023343.1:n.116A>C) affecting a highly conserved nucleotide in the noncoding RNU4ATAC gene could be identified in a patient with overlapping features of Roifman Syndrome. These data extend the spectrum of pathogenic variants in RNU4ATAC. ...[more]

PMID: 30455926

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Project description:IntroductionWe report the case of a fatal hemorrhagic varicella primary infection in an immunocompetent man and whole-genome characterization of the virus for the investigation of biomarkers of virulence.CaseA 38-year-old patient born in Nigeria presented to the emergency department with abdominal pain and subsequently developed fatal hemorrhagic disease without skin rash. Extensive laboratory tests including serology and PCR for arenaviruses, bunyaviruses and ebolaviruses were negative. Varicella-zoster virus (VZV) PCR of sera, liver and spleen tissue samples from autopsy revealed the presence of VZV DNA. Primary infection by varicella-zoster virus with hemorrhagic manifestations was diagnosed after virological testing. The VZV genome was sequenced using a mWGS approach. Bioinformatic analysis showed 53 mutations across the genome, 33 of them producing non-synonymous variants affecting up to 14 genes. Some of them, such as ORF11 and ORF 62, encoded for essential functions related to skin or neurotropism. To our knowledge, the mutations reported here have never been described in a VZV causing such a devastating outcome.DiscussionIn immunocompetent patients, viral factors should be considered in patients with uncommon symptoms or severe diseases. Some relevant mutations revealed by using whole genome sequencing (WGS) directly from clinical samples may be involved in this case and deserves further investigation.ConclusionDifferential diagnosis of varicella-zoster virus in immunocompetent adults should be considered among patients with suspected VHF, even if the expected vesicular rash is not present at admission and does not arise thereafter. Whole genome sequencing of strains causing uncommon symptoms and/or mortality is needed for epidemiological surveillance and further characterization of putative markers of virulence. Additionally, this report highlights the recommendation for a VZV vaccination policy in non-immunized migrants from developing countries.

Dataset Information

Extending the critical regions for mutations in the non-coding gene RNU4ATAC in another patient with Roifman Syndrome.

Publications

Extending the critical regions for mutations in the non-coding gene <i>RNU4ATAC</i> in another patient with Roifman Syndrome.

Similar Datasets

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