A case of severe Aicardi-Goutières syndrome with a homozygous RNASEH2B intronic variant.
Journal
Human genome variation
ISSN: 2054-345X
Titre abrégé: Hum Genome Var
Pays: England
ID NLM: 101652445
Informations de publication
Date de publication:
26 Aug 2024
26 Aug 2024
Historique:
received:
09
07
2024
accepted:
28
07
2024
revised:
26
07
2024
medline:
26
8
2024
pubmed:
26
8
2024
entrez:
25
8
2024
Statut:
epublish
Résumé
We report a case of severe Aicardi-Goutières syndrome caused by a novel homozygous RNASEH2B intronic variant, NC_000013.10(NM_024570.4):c.65-13G > A p.Glu22Valfs*5. The patient was born with pseudo-TORCH symptoms, including intracranial calcification, cataracts, and hepatosplenomegaly. Furthermore, the patient exhibited profound intellectual impairment and died at 14 months due to aspiration pneumonia accompanied by interstitial lung abnormalities. The severity of the patient's symptoms underscores the critical role of the C-terminal region of RNase H2B.
Identifiants
pubmed: 39183359
doi: 10.1038/s41439-024-00291-y
pii: 10.1038/s41439-024-00291-y
doi:
Types de publication
Journal Article
Langues
eng
Pagination
33Subventions
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : im0210625h0001, 17ek0109270s0301, 21ek0109511h0001, 22ek0109511h0002, and 23ek0109511h0003
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : JP24ek0109674, JP24ek0109760, JP24ek0109617, JP24ek0109648, and JP24ek0109677
Organisme : MEXT | Japan Society for the Promotion of Science (JSPS)
ID : JP23K27568
Organisme : MEXT | Japan Society for the Promotion of Science (JSPS)
ID : JP24K02230
Informations de copyright
© 2024. The Author(s).
Références
d’Angelo, D. M., Di Filippo, P., Breda, L. & Chiarelli, F. Type I interferonopathies in children: an overview. Front. Pediatr. 9, 631329 (2021).
doi: 10.3389/fped.2021.631329
pubmed: 33869112
pmcid: 8044321
Liu, A. & Ying, S. Aicardi-Goutières syndrome: A monogenic type I interferonopathy. Scand. J. Immunol. 98, e13314 (2023).
doi: 10.1111/sji.13314
pubmed: 37515439
Adang, L. A. et al. Development of a neurologic severity scale for Aicardi Goutières Syndrome. Mol. Genet Metab. 130, 153–160 (2020).
doi: 10.1016/j.ymgme.2020.03.008
pubmed: 32279991
pmcid: 7366613
Tonduti, D. et al. Encephalopathies with intracranial calcification in children: clinical and genetic characterization. Orphanet J. Rare Dis. 13, 135 (2018).
doi: 10.1186/s13023-018-0854-y
pubmed: 30111349
pmcid: 6094574
Richards, S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405–424 (2015).
doi: 10.1038/gim.2015.30
pubmed: 25741868
pmcid: 4544753
Rice, G. I. et al. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol. 12, 1159–1169 (2013).
doi: 10.1016/S1474-4422(13)70258-8
pubmed: 24183309
pmcid: 4349523
Livingston, J. H. & Crow, Y. J. Neurologic phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières syndrome and beyond. Neuropediatrics 47, 355–360 (2016).
doi: 10.1055/s-0036-1592307
pubmed: 27643693
Crow, Y. J. et al. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am. J. Med. Genet. A 167A, 296–312 (2015).
doi: 10.1002/ajmg.a.36887
pubmed: 25604658
Garau, J. et al. Molecular Genetics and interferon signature in the Italian Aicardi Goutières syndrome cohort: report of 12 new cases and literature review. J. Clin. Med. 8, 750 (2019).
doi: 10.3390/jcm8050750
pubmed: 31130681
pmcid: 6572054
Garau, J. et al. Case report: novel compound heterozygous RNASEH2B mutations cause Aicardi-Goutières syndrome. Front. Immunol. 12, 672952 (2021).
doi: 10.3389/fimmu.2021.672952
pubmed: 33981319
pmcid: 8107470
Genome Aggregation Database (gnomAD). https://gnomad.broadinstitute.org . Accessed 5 June 2024.
Mura, E. et al. Ruxolitinib in Aicardi-Goutières syndrome. Metab. Brain Dis. 36, 859–863 (2021).
doi: 10.1007/s11011-021-00716-5
pubmed: 33721182
Pizzi, S. et al. Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instability. Hum. Mol. Genet 24, 649–658 (2015).
doi: 10.1093/hmg/ddu485
pubmed: 25274781
Benitez-Guijarro, M. et al. RNase H2, mutated in Aicardi-Goutières syndrome, promotes LINE-1 retrotransposition. EMBO J. 37, e98506 (2018).
doi: 10.15252/embj.201798506
pubmed: 29959219
pmcid: 6068448
Ostergaard, E. et al. A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands. Acta Paediatr. 101, e509–e513 (2012).
doi: 10.1111/j.1651-2227.2012.02807.x
pubmed: 22882256