Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.
Sign Up to like & getrecommendations! Published in 2018 at "Birth defects research"
DOI: 10.1002/bdr2.1191
Abstract: BACKGROUND Bainbridge-Ropers syndrome (BRPS) is a recently identified severe disorder characterized by failure to thrive, facial dysmorphism, and severe developmental delay, caused by de novo dominant loss of function mutation in the ASXL3 gene. CASE… read more here.
Keywords: hypoplasia type; case; bainbridge ropers; ropers syndrome ... See more keywords
What connects splicing of transfer RNA precursor molecules with pontocerebellar hypoplasia?
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DOI: 10.1002/bies.202200130
Abstract: Transfer RNAs (tRNAs) represent the most abundant class of RNA molecules in the cell and are key players during protein synthesis and cellular homeostasis. Aberrations in the extensive tRNA biogenesis pathways lead to severe neurological… read more here.
Keywords: pontocerebellar hypoplasia; transfer rna; connects splicing; rna ... See more keywords
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
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DOI: 10.1016/j.neuron.2020.10.035
Abstract: Autosomal-recessive cerebellar hypoplasia and ataxia constitute a group of heterogeneous brain disorders caused by disruption of several fundamental cellular processes. Here, we identified 10 families showing a neurodegenerative condition involving pontocerebellar hypoplasia with microcephaly (PCHM).… read more here.
Keywords: hypoplasia microcephaly; pontocerebellar hypoplasia; ppil1 prp17; hypoplasia ... See more keywords
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.
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DOI: 10.1038/s10038-020-00853-2
Abstract: Pontocerebellar hypoplasia (PCH) is currently classified into 13 subgroups and many gene variants associated with PCH have been identified by next generation sequencing. PCH type 1 is a rare heterogeneous neurodegenerative disorder. The clinical presentation… read more here.
Keywords: neuronopathy cerebellar; type; motor neuronopathy; exosc9 variants ... See more keywords
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
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DOI: 10.1038/s41431-018-0098-2
Abstract: Pontocerebellar hypoplasia (PCH) represents a group of autosomal-recessive progressive neurodegenerative disorders of prenatal onset. Eleven PCH subtypes are classified according to clinical, neuroimaging and genetic findings. Individuals with PCH type 9 (PCH9) have a unique… read more here.
Keywords: spectrum; ampd2 related; type; pontocerebellar hypoplasia ... See more keywords
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
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DOI: 10.1038/s41467-020-19919-y
Abstract: Inositol polyphosphates are vital metabolic and secondary messengers, involved in diverse cellular functions. Therefore, tight regulation of inositol polyphosphate metabolism is essential for proper cell physiology. Here, we describe an early-onset neurodegenerative syndrome caused by… read more here.
Keywords: inositol; accumulation; inositol hexakisphosphate; minpp1 ... See more keywords
Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease
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DOI: 10.1101/mcs.a006165
Abstract: Noncoding and synonymous coding variants that exert their effects via alternative splicing are increasingly recognized as an important category of disease-causing variants. In this report, we describe two siblings who presented with hypotonia, profound developmental… read more here.
Keywords: two siblings; pontocerebellar hypoplasia; hypoplasia type; biallelic sepsecs ... See more keywords
RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels
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DOI: 10.26508/lsa.202000678
Abstract: The work highlights the link between dysfunction of the RNA exosome, ribosome biogenesis, p53-dependent signalling, and apoptosis. Pontocerebellar hypoplasia caused by mutations of the exosome subunits could be classified as a ribosomopathy. The RNA exosome… read more here.
Keywords: rna exosome; biogenesis p53; p53; pontocerebellar hypoplasia ... See more keywords
Clinico-radiological Profile of Children with Pontocerebellar Hypoplasia
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Pediatric Neurosciences"
DOI: 10.4103/jpn.jpn_6_19
Abstract: Aims and Objectives: Pontocerebellar hypoplasia (PCH) constitutes a heterogeneous group of neurodegenerative/neurodevelopmental disorder of pons and cerebellum with onset in prenatal period. This study aimed to discuss the clinical, radiological profile, and outcome of four… read more here.
Keywords: four children; pch; radiological profile; psychomotor retardation ... See more keywords