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| Childhood onset dystonia, chorea or related movement disorder v3.11 | NUP54 |
Achchuthan Shanmugasundram changed review comment from: PMID:36333996 reported three unrelated patients with early-onset dystonia with striatal lesions identified with biallelic variants in NUP54 gene. One patient (patient A) had homozygous variant c.1073T>G (p.Ile358Ser), while other two patients had compound heterozygous variants (patient B: c.1073T>G (p.Ile358Ser) & c.1126A>G (p.Lys376Glu); patient C: c.1410_1412del (p.Gln471del) and two missense variants c.1414G>A (p.Glu472Lys) & c.1420C>T (p.Leu474Phe)). The age of onset was between 12 months and five years and all had progressive neurological deterioration with dystonia, ataxia, dysarthria, dysphagia, hypotonia. This gene has been associated with relevant phenotypes in Gene2Phenotype (NUP54-related early-onset dystonia with striatal lesions with 'moderate' rating in the DD panel), but not in OMIM. Sources: Literature; to: PMID:36333996 reported three unrelated patients with early-onset dystonia with striatal lesions identified with biallelic variants in NUP54 gene. One patient (patient A) had homozygous variant c.1073T>G (p.Ile358Ser), while other two patients had compound heterozygous variants (patient B: c.1073T>G (p.Ile358Ser) & c.1126A>G (p.Lys376Glu); patient C: c.1410_1412del (p.Gln471del) and two missense variants c.1414G>A (p.Glu472Lys) & c.1420C>T (p.Leu474Phe)). The age of onset was between 12 months and five years and all had progressive neurological deterioration with dystonia, ataxia, dysarthria, dysphagia, hypotonia. Western blots showed reduced expression of NUP54 and its interaction partners NUP62/NUP58 in patient fibroblasts. This gene has been associated with relevant phenotypes in Gene2Phenotype (NUP54-related early-onset dystonia with striatal lesions with 'moderate' rating in the DD panel), but not in OMIM. Sources: Literature |
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| Childhood onset dystonia, chorea or related movement disorder v0.7 | NUP62 |
Ellen McDonagh Source PanelApp was added to NUP62. Added phenotypes Striatonigral degeneration, infantile 271930 for gene: NUP62 Publications for gene NUP62 were changed from to 16786527; 12374138; 14718703 |
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| Childhood onset dystonia, chorea or related movement disorder v0.1 | NUP62 |
Ellen McDonagh gene: NUP62 was added gene: NUP62 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile 271930 |
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