Congenital hypomyelinating neuropathy due to the association of a truncating mutation in PMP22 with the classical HNPP deletion
| العنوان: | Congenital hypomyelinating neuropathy due to the association of a truncating mutation in PMP22 with the classical HNPP deletion |
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| المؤلفون: | Philippe Latour, Jean-Michel Vallat, Stéphane Mathis, Franck Sturtz, Elisabeth Ollagnon-Roman, Laurence Richard, Maxime Jouaud, Laurent Magy, Pierre-Marie Gonnaud |
| المساهمون: | Maintenance Myélinique et Neuropathies Périphériques (MMNP), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Centre de référence national neuropathies périphériques rares [CHU Limoges], CHU Limoges, Service de Neurologie [CHU Limoges], Service de Biochimie et Génétique Moléculaire [CHU Limoges], Service de neurologie [Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers) |
| المصدر: | Neuromuscular Disorders Neuromuscular Disorders, Elsevier, 2016, 26 (4-5), pp.316-321. ⟨10.1016/j.nmd.2016.01.004⟩ |
| بيانات النشر: | Elsevier BV, 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | Male, 0301 basic medicine, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Biopsy, Neural Conduction, Sural nerve, Biology, Nerve biopsy, Young Adult, 03 medical and health sciences, Exon, 0302 clinical medicine, Sural Nerve, Charcot-Marie-Tooth Disease, Internal medicine, Peripheral myelin protein 22, medicine, Humans, Point Mutation, Congenital hypomyelinating neuropathy, RNA, Messenger, Allele, Genetics (clinical), Sequence Deletion, Genetics, medicine.diagnostic_test, CMT, Myelin protein zero, Point mutation, 030104 developmental biology, Endocrinology, PMP22, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Neurology (clinical), Myelin Proteins, 030217 neurology & neurosurgery |
| الوصف: | International audience; Congenital hypomyelinating neuropathy appears early in life, resulting in a delay of motor and sensory development. Mutations involve genes such as myelin protein zero (MPZ), peripheral myelin protein 22 (PMP22), and early growth response 2 (EGR2). We present a patient with two compound mutations in PMP22: a point mutation causing a premature STOP codon in exon 3 was inherited from the mother on the first allele, and the "typical" PMP22 deletion in the 17p11.2-p12 region was inherited from the father on the other allele. A sural biopsy was performed at age four. The patient has been followed from 28 months to 21 years of age; he presented significant sensory disturbances, with a slight motor deficit. PMP22 mRNA quantitation showed a severe decrease of PMP22 protein. No myelin sheaths were observed in the biopsy; mesaxons failed to form. The absence of PMP22 provides new insights into the role of this protein. |
| تدمد: | 0960-8966 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3b3d2fe18a089c97d79b82c9ae24461Test https://doi.org/10.1016/j.nmd.2016.01.004Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....c3b3d2fe18a089c97d79b82c9ae24461 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 09608966 |
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