A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: Clinical and pathological findings
| Autor: | Tanya Stojkovic, Claude-Alain Maurage, Bernard Prudhon, Patrick Vermersch, Pascale Guicheney, Philippe Latour, Marc Bitoun |
|---|---|
| Přispěvatelé: | Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Université Pierre et Marie Curie - Paris 6 (UPMC), Centre de référence des maladies rares neuromusculaires, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Institut de Pathologie [CHU Lille], Pôle de Biologie Pathologie Génétique [CHU Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hospices Civils de Lyon (HCL), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Pitié-Salpêtrière [APHP], We thank the Institut National de la Santé et de la Recherche Médicale (INSERM) and the Association Française contre les Myopathies (AFM) for financial support. Marc Bitoun was a recipient of an INSERM fellowship., We thank the patient and her family for their participation in this study, Dr. N. Clarke for helpful advices, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP) |
| Jazyk: | angličtina |
| Rok vydání: | 2008 |
| Předmět: |
Pathology
[SDV]Life Sciences [q-bio] DNA Mutational Analysis Clinical findings Sequence Homology MESH: Charcot-Marie-Tooth Disease/physiopathology medicine.disease_cause Dynamin II 0302 clinical medicine Ptosis Charcot-Marie-Tooth Disease MESH: Charcot-Marie-Tooth Disease/genetics MESH: Sequence Homology MESH: DNA Mutational Analysis Genetics (clinical) Genetics MESH: Dynamin II/genetics 0303 health sciences Mutation medicine.diagnostic_test MESH: Muscle Skeletal/pathology MESH: Mutation/genetics 3. Good health MESH: Charcot-Marie-Tooth Disease/pathology Phenotype Neurology Congenital cataracts Female Muscle biopsy medicine.symptom Charcot-Marie-Tooth neuropathy medicine.medical_specialty Adolescent Biology MESH: Phenotype Ophthalmoparesis 03 medical and health sciences MESH: Genetic Predisposition to Disease medicine Humans Genetic Predisposition to Disease Muscle Skeletal Autosomal dominant centronuclear myopathy 030304 developmental biology Dynamin MESH: Adolescent MESH: Humans medicine.disease DNM2 Pediatrics Perinatology and Child Health Neurology (clinical) Dynamin 2 mutation MESH: Female 030217 neurology & neurosurgery |
| Zdroj: | Neuromuscular Disorders Neuromuscular Disorders, Elsevier, 2008, 18 (4), pp.334-338. ⟨10.1016/j.nmd.2008.01.005⟩ Neuromuscular Disorders, 2008, 18 (4), pp.334-338. ⟨10.1016/j.nmd.2008.01.005⟩ |
| ISSN: | 0960-8966 |
| DOI: | 10.1016/j.nmd.2008.01.005⟩ |
| Popis: | International audience; Mutations in dynamin 2 (DNM2) have been associated with autosomal dominant centronuclear myopathy, dominant intermediate Charcot-Marie-Tooth (CMT) type B and CMT2. Here, we report a novel DNM2 mutation in the Pleckstrin homology domain of DNM2 (p.K559del) in a patient with an axonal length-dependent sensorimotor polyneuropathy predominantly affecting the lower limbs. Neuropathy is associated with congenital cataracts, ophthalmoparesis, ptosis and neutropenia. There was no evidence of a skeletal myopathy on EMG or muscle biopsy. We suggest that this constellation of clinical features can help the diagnosis and selection of patients for direct DNM2 genetic analysis. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect