Pontocerebellar hypoplasia

Definition:

Pontocerebellar hypoplasia (PCH) is a group of inherited progressive neurodegenerative disorders with prenatal onset. Up to now ten different subtypes have been reported. All subtypes share common characteristics, including hypoplasia/atrophy of cerebellum and pons, progressive microcephaly, and variable cerebral involvement. Mutations in three tRNA splicing endonuclease subunit genes were found to be responsible for PCH2, PCH4 and PCH5. Mutations in the nuclear encoded mitochondrial arginyl- tRNA synthetase gene underlie PCH6. PCH1 is caused by homozygous mutation in the VRK1 gene.

References:

[1]. Alexander J Abrams, et al. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nat Genet. 2015 Aug;47(8):926-32. [Content Brief]

[2]. Annette Uwineza, et al. VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report. Eur J Med Genet. 2019 Aug;62(8):103704. [Content Brief]

[3]. Bart Appelhof, et al. Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. Eur J Hum Genet. 2021 Mar;29(3):411-421. [Content Brief]

[4]. Birgit S Budde, et al. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet. 2008 Sep;40(9):1113-8. [Content Brief]

[5]. David T Burns, et al. Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy. Am J Hum Genet. 2018 May 3;102(5):858-873. [Content Brief]

[6]. Ekaterina L Ivanova, et al. Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. Am J Hum Genet. 2017 Sep 7;101(3):428-440. [Content Brief]

[7]. Ender Karaca, et al. Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 Apr 24;157(3):636-50. [Content Brief]

[8]. Ganeshwaran H Mochida, et al. CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. Nat Genet. 2012 Nov;44(11):1260-4. [Content Brief]

[9]. Guoliang Chai, et al. Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron. 2021 Jan 20;109(2):241-256.e9. [Content Brief]

[10]. Marion Coolen, et al. Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation. Am J Hum Genet. 2022 May 5;109(5):909-927. [Content Brief]

[11]. Martin W Breuss, et al. Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. Am J Hum Genet. 2016 Jul 7;99(1):228-35. [Content Brief]

[12]. Miora Feinstein, et al. VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2). J Med Genet. 2014 May;51(5):303-8. [Content Brief]

[13]. Mustafa Y Ahmed, et al. Loss of PCLO function underlies pontocerebellar hypoplasia type III. Neurology. 2015 Apr 28;84(17):1745-50. [Content Brief]

[14]. Naiara Akizu, et al. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell. 2013 Aug 1;154(3):505-17. [Content Brief]

[15]. Orly Agamy, et al. Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy. Am J Hum Genet. 2010 Oct 8;87(4):538-44. [Content Brief]

[16]. Paul Renbaum, et al. Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. Am J Hum Genet. 2009 Aug;85(2):281-9. [Content Brief]

[17]. Puneeth H Somashekar, et al. Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia. Clin Genet. 2021 Apr;99(4):594-600. [Content Brief]

[18]. Rea M Lardelli, et al. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet. 2017 Mar;49(3):457-464. [Content Brief]

[19]. Roberta Biancheri, et al. EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. J Neurol. 2013 Jul;260(7):1866-70. [Content Brief]

[20]. Simon Edvardson, et al. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am J Hum Genet. 2007 Oct;81(4):857-62. [Content Brief]

[21]. Tessa van Dijk, et al. Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis. Eur J Hum Genet. 2018 Dec;26(12):1752-1758. [Content Brief]

[22]. Veronika Boczonadi, et al. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nat Commun. 2014 Jul 3;5:4287. [Content Brief]

[23]. Yasmin Namavar, et al. Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia. Orphanet J Rare Dis. 2011 Jul 12;6:50. [Content Brief]

[24]. Yasmin Namavar, et al. TSEN54 mutations cause pontocerebellar hypoplasia type 5. Eur J Hum Genet. 2011 Jun;19(6):724-6. [Content Brief]

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