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McMillan, Hugh J.; Davila, Jorge; Osmond, Matt; Chakraborty, Pranesh; Boycott, Kym M.; Dyment, David A.; Kernohan, Kristin D.

Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature

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  • Medientyp: E-Artikel
  • Titel: Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature
  • Beteiligte: McMillan, Hugh J.; Davila, Jorge; Osmond, Matt; Chakraborty, Pranesh; Boycott, Kym M.; Dyment, David A.; Kernohan, Kristin D.
  • Erschienen: Wiley, 2021
  • Erschienen in: American Journal of Medical Genetics Part A, 185 (2021) 11, Seite 3502-3506
  • Sprache: Englisch
  • DOI: 10.1002/ajmg.a.62457
  • ISSN: 1552-4825; 1552-4833
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>Biallelic pathogenic variants in <jats:italic>RNU4ATAC</jats:italic> have been linked to microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1). Although children with MOPD1 have been reported to show profound, life‐limiting clinical decompensation at the time of a febrile illness, these episodes including magnetic resonance imaging (MRI) findings have not been well characterized. We present acute MRI brain findings for a 10‐year‐old girl with homozygous variants in <jats:italic>RNU4ATAC</jats:italic> (NR_023343.1) n.55G&gt;A, who presented with two episodes of clinical decompensation associated with a febrile illness in early childhood. The pathogenic variants were identified by whole genome sequencing as <jats:italic>RNU4ATAC</jats:italic> is not captured in most exome products. Her MRI of the brain revealed symmetric, diffusion restriction of the deep gray nuclei that initially pointed to a mitochondrial disease or acute necrotizing encephalopathy. Her phenotype included microcephaly and profound cognitive impairment that can be seen with MOPD1. However, she did not demonstrate clinical or radiographic evidence of a spondyloepimetaphyseal dysplasia or “primordial dwarfism” that is characteristic of this disease. As such, the predominant neurological presentation of this child represents an atypical variant of <jats:italic>RNU4ATAC</jats:italic>‐associated disease and should be a diagnostic consideration for geneticists and neurologists caring for children, particularly in the event of an acute clinical decline.</jats:p>