Clinical features of homozygous FIG4‐p.Ile41Thr Charcot‐Marie‐Tooth 4J patients
| Autor: | Catherine Sarret, Fanny Laffargue, Laurent Magy, Maxime Lafontaine, Marie-Christine Arne-Bes, Hélène Beauvais-Dzugan, Anne-Sophie Lia, Franck Sturtz, Sylvie Bourthoumieu, Corinne Magdelaine, Paco Derouault, Armelle Magot |
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| Přispěvatelé: | Institut Pascal (IP), Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne (UCA)-Institut national polytechnique Clermont Auvergne (INP Clermont Auvergne), Université Clermont Auvergne (UCA)-Université Clermont Auvergne (UCA) |
| Rok vydání: | 2021 |
| Předmět: |
Adult
Male 0301 basic medicine medicine.medical_specialty Adolescent Genotype [SDV]Life Sciences [q-bio] Inheritance Patterns Dose dependence Hypomorphic allele Neurosciences. Biological psychiatry. Neuropsychiatry Disease Brief Communication Compound heterozygosity Gastroenterology 03 medical and health sciences 0302 clinical medicine Charcot-Marie-Tooth Disease Internal medicine medicine Humans Genetic Testing RC346-429 Alleles ComputingMilieux_MISCELLANEOUS Early onset [SDV.GEN]Life Sciences [q-bio]/Genetics Flavoproteins business.industry General Neuroscience Homozygote Intracellular Signaling Peptides and Proteins Phenotype Null allele Phosphoric Monoester Hydrolases 3. Good health 030104 developmental biology Mutation [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] Neurology. Diseases of the nervous system Neurology (clinical) Brief Communications business 030217 neurology & neurosurgery Demyelinating Diseases RC321-571 |
| Zdroj: | Annals of Clinical and Translational Neurology Annals of Clinical and Translational Neurology, Wiley, 2021, ⟨10.1002/acn3.51175⟩ Annals of Clinical and Translational Neurology, Vol 8, Iss 2, Pp 471-476 (2021) Annals of Clinical and Translational Neurology, 2021, ⟨10.1002/acn3.51175⟩ |
| ISSN: | 2328-9503 |
| DOI: | 10.1002/acn3.51175 |
| Popis: | We describe the clinical, electrodiagnostic, and genetic findings of three homozygous FIG4‐c.122T>C patients suffering from Charcot‐Marie‐Tooth disease type 4J (AR‐CMT‐FIG4). This syndrome usually involves compound heterozygosity associating FIG4‐c.122T>C, a hypomorphic allele coding an unstable FIG4‐p.Ile41Thr protein, and a null allele. While the compound heterozygous patients presenting with early onset usually show rapid progression, the homozygous patients described here show the signs of relative clinical stability. As FIG4 activity is known to be dose dependent, these patients’ observations could suggest that the therapeutic perspective of increasing levels of the protein to improve the phenotype of AR‐CMT‐FIG4‐patients might be efficient. |
| Databáze: | OpenAIRE |
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