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Tytuł pozycji:

Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review.

Tytuł:
Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review.
Autorzy:
Dabaj I; Department of Neonatalogy, Pediatric Intensive Care and Neuropediatrics, CHU de Rouen, F-76000 Rouen, France.; Normandie University, UNIROUEN, CHUROUEN, INSERM U1245, F-76000 Rouen, France.
Hassani A; Department of Radiology, CHUROUEN, F-76000 Rouen, France.
Burglen L; Centre de Référence 'Malformations et Maladies Congénitales du Cervelet', APHP, Sorbonne Université, F-75012 Paris, France.; Département de Génétique, Hôpital Armand Trousseau, APHP, Sorbonne Université, F-75012 Paris, France.; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015 Paris, France.
Qebibo L; Centre de Référence 'Malformations et Maladies Congénitales du Cervelet', APHP, Sorbonne Université, F-75012 Paris, France.
Guerrot AM; Department of Genetics, CHUROUEN, F-76000 Rouen, France.
Marret S; Department of Neonatalogy, Pediatric Intensive Care and Neuropediatrics, CHU de Rouen, F-76000 Rouen, France.; Normandie University, UNIROUEN, CHUROUEN, INSERM U1245, F-76000 Rouen, France.
Tebani A; Normandie University, UNIROUEN, CHUROUEN, INSERM U1245, F-76000 Rouen, France.; Department of Metabolic Biochemistry, CHUROUEN, F-76000 Rouen, France.
Bekri S; Normandie University, UNIROUEN, CHUROUEN, INSERM U1245, F-76000 Rouen, France.; Department of Metabolic Biochemistry, CHUROUEN, F-76000 Rouen, France.
Źródło:
Journal of clinical medicine [J Clin Med] 2022 Jul 26; Vol. 11 (15). Date of Electronic Publication: 2022 Jul 26.
Typ publikacji:
Case Reports
Język:
English
Imprint Name(s):
Original Publication: Basel, Switzerland : MDPI AG, [2012]-
References:
Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):173-83. (PMID: 24924738)
Eur J Med Genet. 2020 Jan;63(1):103622. (PMID: 30690203)
Hum Mol Genet. 2020 Mar 13;29(4):541-553. (PMID: 31628467)
Brain. 2017 Aug 1;140(8):e46. (PMID: 28637197)
Orphanet J Rare Dis. 2014 Feb 13;9:23. (PMID: 24524299)
Nat Genet. 2012 Apr 29;44(6):704-8. (PMID: 22544365)
J Hum Genet. 2021 Apr;66(4):401-407. (PMID: 33040083)
Neurology. 2016 Jul 5;87(1):65-70. (PMID: 27281532)
J Med Genet. 2016 Jun;53(6):419-25. (PMID: 26843489)
Nat Commun. 2014 Jul 03;5:4287. (PMID: 24989451)
J Neuromuscul Dis. 2015;2(Suppl 2):S31-S37. (PMID: 27127732)
Orphanet J Rare Dis. 2011 Jul 12;6:50. (PMID: 21749694)
Am J Hum Genet. 2009 Aug;85(2):281-9. (PMID: 19646678)
Hum Mol Genet. 2016 Jul 15;25(14):2985-2996. (PMID: 27193168)
JAMA Neurol. 2013 Dec;70(12):1491-8. (PMID: 24126608)
Neuropediatrics. 2021 Jun;52(3):163-169. (PMID: 33111306)
Trends Biochem Sci. 2013 Oct;38(10):485-93. (PMID: 23910895)
Sci Rep. 2020 Jun 9;10(1):9275. (PMID: 32518284)
RNA. 2018 Feb;24(2):127-142. (PMID: 29093021)
Life Sci Alliance. 2020 Jun 11;3(8):. (PMID: 32527837)
J Med Genet. 2022 Apr;59(4):399-409. (PMID: 34085948)
Am J Hum Genet. 2018 May 3;102(5):858-873. (PMID: 29727687)
Brain. 2016 Nov 1;139(11):2877-2890. (PMID: 27543974)
Contributed Indexing:
Keywords: EXOSC9; cerebellar atrophy; motor neuron disease; pontocerebellar hypoplasia; spinal motor neuronopathy
Entry Date(s):
Date Created: 20220727 Latest Revision: 20230308
Update Code:
20240104
PubMed Central ID:
PMC9368788
DOI:
10.3390/jcm11154335
PMID:
35893425
Raport
Pontocerebellar hypoplasia (PCH) is an autosomal recessive, neurodegenerative disorder with multiple subtypes leading to severe neurodevelopmental disabilities. PCH type 1 D is linked to alterations in the EXOSC9 gene. EXOSC9 is a component of the RNA exosome, an evolutionarily conserved ribonuclease complex essential for RNA degradation and processing. The clinical phenotype is characterized by cerebellar and pontine hypoplasia associated with motor neuronopathy. To date, nine patients have been reported in the literature with PCH1D. We report the case of an infant with PCH type 1D due to two variants in the EXOCS9 gene (NM_001034194.1: c.41T>C-p.Leu14Pro) and a novel variant (c.643C>T-p.Arg212*). This report thoroughly reviews the literature PCH1D and highlights the crucial role of the exosome in cellular homeostasis.
Competing Interests: The authors declare no conflict of interest.
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