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Novel Genetic and P...
Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy
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- Hentrich, Lea (författare)
- University Hospital of Cologne,Cologne Cluster of Excellence in Cellular Stress Responses in Aging-Associated Diseases,University of Cologne,Max Planck Institute for Biology of Ageing
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- Parnes, Mered (författare)
- Baylor College of Medicine
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- Lotze, Timothy Edward (författare)
- Baylor College of Medicine
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- Coorg, Rohini (författare)
- Baylor College of Medicine
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- de Koning, Tom J (författare)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,University of Groningen
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- Nguyen, Kha M (författare)
- University of British Columbia
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- Yip, Calvin K (författare)
- University of British Columbia
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- Jungbluth, Heinz (författare)
- King's College London,Evelina London Children's Healthcare
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- Koy, Anne (författare)
- University of Cologne,University Hospital of Cologne
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- Dafsari, Hormos Salimi (författare)
- King's College London,Max Planck Institute for Biology of Ageing,University Hospital of Cologne,Evelina London Children's Healthcare,Cologne Cluster of Excellence in Cellular Stress Responses in Aging-Associated Diseases,University of Cologne
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(creator_code:org_t)
- 2023
- 2023
- Engelska.
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Ingår i: Genes. - 2073-4425. ; 14:10
- Relaterad länk:
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http://dx.doi.org/10... (free)
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https://lup.lub.lu.s...
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https://doi.org/10.3...
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Abstract
Ämnesord
Stäng
- Biallelic variants in the Golgi SNAP receptor complex member 2 gene ( GOSR2) have been reported in progressive myoclonus epilepsy with neurodegeneration. Typical clinical features include ataxia and areflexia during early childhood, followed by seizures, scoliosis, dysarthria, and myoclonus. Here, we report two novel patients from unrelated families with a GOSR2-related disorder and novel genetic and clinical findings. The first patient, a male compound heterozygous for the GOSR2 splice site variant c.336+1G>A and the novel c.364G>A,p.Glu122Lys missense variant showed global developmental delay and seizures at the age of 2 years, followed by myoclonus at the age of 8 years with partial response to clonazepam. The second patient, a female homozygous for the GOSR2 founder variant p.Gly144Trp, showed only mild fine motor developmental delay and generalized tonic-clonic seizures triggered by infections during adolescence, with seizure remission on levetiracetam. The associated movement disorder progressed atypically slowly during adolescence compared to its usual speed, from initial intention tremor and myoclonus to ataxia, hyporeflexia, dysmetria, and dystonia. These findings expand the genotype-phenotype spectrum of GOSR2-related disorders and suggest that GOSR2 should be included in the consideration of monogenetic causes of dystonia, global developmental delay, and seizures.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Nyckelord
- Adolescent
- Child
- Child, Preschool
- Female
- Humans
- Male
- Ataxia/genetics
- Dystonia
- Dystonic Disorders
- Mutation
- Myoclonic Epilepsies, Progressive/genetics
- Myoclonus
- Qb-SNARE Proteins/genetics
- Seizures
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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Hentrich, Lea
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Parnes, Mered
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Lotze, Timothy E ...
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Coorg, Rohini
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de Koning, Tom J
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Nguyen, Kha M
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visa fler...
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Yip, Calvin K
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Jungbluth, Heinz
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Koy, Anne
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Dafsari, Hormos ...
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