Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy
| Autor: | Laure Simon, Stéphane Bézieau, Sébastien Schmitt, Xenia Latypova, Madeleine Joubert, Mathilde Nizon, Claire Beneteau, Jean-Michel Vallat, Benjamin Cogné, Sandra Mercier, Bertrand Isidor, Yann Péréon, Marie Vincent, Sébastien Küry, Jean-Michel Liet, Marianne Coste, Pierre Boisseau, Jean-Marie Mussini, Catherine Larrose |
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| Přispěvatelé: | Hôpital Hôtel-Dieu [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Limoges, Hôpital Femme Mère Enfant |
| Rok vydání: | 2016 |
| Předmět: |
Foot Deformities
Male 0301 basic medicine Pathology medicine.medical_specialty neuropathies Cell Adhesion Molecules Neuronal Mutation Missense Short Report Motor nerve Biology Compound heterozygosity Frameshift mutation 03 medical and health sciences Myelin 0302 clinical medicine Genetics medicine Humans Missense mutation Genetic Predisposition to Disease Axon Myelin Sheath Genetics (clinical) congenita Arthrogryposis [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics Siblings Homozygote Infant Newborn Infant Pathophysiology 3. Good health 030104 developmental biology medicine.anatomical_structure factor nervous system Muscle Hypotonia genetic medicine.symptom 030217 neurology & neurosurgery |
| Zdroj: | European Journal of Human Genetics European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (1), pp.150-152. ⟨10.1038/ejhg.2016.142⟩ |
| ISSN: | 1476-5438 1018-4813 |
| Popis: | International audience; Homozygous frameshift variants in CNTNAP1 have recently been reported in patients with arthrogryposis and abnormal axon myelination. In two brothers with severe congenital hypotonia and foot deformities, we identified compound heterozygous variants in CNTNAP1, reporting the first causative missense variant, p.(Cys323Arg). Motor nerve conductions were markedly decreased. Nerve microscopical lesions confirmed a severe hypomyelinating process and showed loss of attachment sites of the myelin loops on the axons, which could be a characteristic of Caspr loss-of-function. We discuss the pathophysiology of the myelination process and we propose to consider this disorder as a congenital hypomyelinating neuropathy. |
| Databáze: | OpenAIRE |
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