Advanced search
Publication Cover
The Journal of Maternal-Fetal & Neonatal Medicine Volume 36, 2023 - Issue 2
Submit an article Journal homepage
574
Views
0
CrossRef citations to date
0
Altmetric
Original Article

Genetic and prenatal diagnosis of a Chinese pedigree with pathogenic TOE1 variants causing pontocerebellar hypoplasia type 7

Hongmei Guoa Dongguan Maternal and Child Health Care Hospital, Dongguan, P.R.ChinaView further author information
,
Zhengxi Denga Dongguan Maternal and Child Health Care Hospital, Dongguan, P.R.ChinaView further author information
,
Qiuhong Xua Dongguan Maternal and Child Health Care Hospital, Dongguan, P.R.ChinaView further author information
,
Zhong Wanga Dongguan Maternal and Child Health Care Hospital, Dongguan, P.R.ChinaView further author information
,
Xiumei Zenga Dongguan Maternal and Child Health Care Hospital, Dongguan, P.R.ChinaView further author information
,
Xiaochun Honga Dongguan Maternal and Child Health Care Hospital, Dongguan, P.R.ChinaView further author information
,
Qingming Wanga Dongguan Maternal and Child Health Care Hospital, Dongguan, P.R.China;b Department of Medical Genetics, Dongguan Maternal and Child Health Care Hospital, Dongguan, P.R.ChinaView further author information
,
Yan Suna Dongguan Maternal and Child Health Care Hospital, Dongguan, P.R.ChinaView further author information
&
Haiming Yuana Dongguan Maternal and Child Health Care Hospital, Dongguan, P.R.China;b Department of Medical Genetics, Dongguan Maternal and Child Health Care Hospital, Dongguan, P.R.ChinaCorrespondence[email protected]
View further author information
 show all
Article: 2250895 | Received 13 Jan 2023, Accepted 17 Aug 2023, Published online: 27 Aug 2023

References

  • Cassandrini D, Biancheri R, Tessa A, et al. Pontocerebellar hypoplasia clinical, pathologic, and genetic studies. Neurology. 2010;75(16):1459–1464. doi:10.1212/WNL.0b013e3181f88173.
  • Kasinathan A, Sankhyan N, Dijk TV, et al. Clinico-radiological profile of children with pontocerebellar hypoplasia. J Pediatr Neurosci. 2020;15(2):94–98. doi:10.4103/jpn.JPN_6_19.
  • Namavar Y, Barth PG, Kasher PR, et al. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain. 2011;134(Pt 1):143–156. doi:10.1093/brain/awq287.
  • van Dijk T, Baas F, Barth PG, et al. What’s new in pontocerebellar hypoplasia? An update on genes and subtypes. Orphanet J Rare Dis. 2018a;13(1):92. doi:10.1186/s13023-018-0826-2.
  • van Dijk T, Ferdinandusse S, Ruiter JPN, et al. Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis. Eur J Hum Genet. 2018b;26(12):1752–1758. doi:10.1038/s41431-018-0233-0.
  • Uwineza A, Caberg JH, Hitayezu J, et al. VPS51 biallelic variants cause microcephaly with brain malformations: a confirmatory report. Eur J Med Genet. 2019;62(8):103704. doi:10.1016/j.ejmg.2019.103704.
  • Chai G, Webb A, Li C, et al. Mutations in spliceosomal genes PPIL1 and PRP17 cause neurodegenerative pontocerebellar hypoplasia with microcephaly. Neuron. 2021;109(2):241–256.e9. doi:10.1016/j.neuron.2020.10.035.
  • Ucuncu E, Rajamani K, Wilson MSC, et al. MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in pontocerebellar hypoplasia. Nat Commun. 2020;11(1):6087. doi:10.1038/s41467-020-19919-y.
  • Coolen M, Altin N, Rajamani K, et al. Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation. Am J Hum Genet. 2022;109(5):909–927. doi:10.1016/j.ajhg.2022.03.010.
  • Lardelli RM, Schaffer AE, Eggens VR, et al. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet. 2017;49(3):457–464. doi:10.1038/ng.3762.
  • Anderson C, Davies JH, Lamont L, et al. Early pontocerebellar hypoplasia with vanishing testes: a new syndrome? Am J Med Genet A. 2011;155A(4):667–672. doi:10.1002/ajmg.a.33897.
  • Chen H, Li N, Xu Y, et al. Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype. Neurogenetics. 2022;23(1):11–17. doi:10.1007/s10048-021-00675-0.
  • Richards S, Aziz N, Bale 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. 2015;17(5):405–424. doi:10.1038/gim.2015.30.
  • Son A, Park JE, Kim VN. PARN and TOE1 constitute a 3' end maturation module for nuclear non-coding RNAs. Cell Rep. 2018;23(3):888–898. doi:10.1016/j.celrep.2018.03.089.
  • Lardelli RM, Lykke-Andersen J. Competition between maturation and degradation drives human snRNA 3' end quality control. Genes Dev. 2020;34(13-14):989–1001. doi:10.1101/gad.336891.120.
  • Deng T, Huang Y, Weng K, et al. TOE1 acts as a 3' exonuclease for telomerase RNA and regulates telomere maintenance. Nucleic Acids Res. 2019;47(1):391–405. doi:10.1093/nar/gky1019.
  • Sperandio S, Tardito S, Surzycki A, et al. TOE1 interacts with p53 to modulate its transactivation potential. FEBS Lett. 2009;583(13):2165–2170. doi:10.1016/j.febslet.2009.06.004.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.