التفاصيل البيبلوغرافية
العنوان: |
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease |
المؤلفون: |
Amandine Boyer, P. K. Thomas, Beate Schlotter, Elizabeth Freitas, Ian Martins, Rafaëlle Bernard, Boryana Ishpekova, Albena Jordanova, Jaume Colomer, Luba Kalaydjieva, Garth A. Nicholson, Thomas Voit, Velina Guergelcheva, Ivailo Tournev, Hanns Lochmüller, Michael Hunter, Nicolas Lévy, Ivo Kremensky, Bharti Morar |
المصدر: |
Human Mutation. 22:129-135 |
بيانات النشر: |
Hindawi Limited, 2003. |
سنة النشر: |
2003 |
مصطلحات موضوعية: |
Genetics, Mutation, Sequence analysis, Single-nucleotide polymorphism, Biology, medicine.disease_cause, medicine.disease, Phenotype, Pathogenesis, Exon, medicine, Hereditary motor and sensory neuropathy, Gene, Genetics (clinical) |
الوصف: |
In a previous study, we have shown that N-myc downstream-regulated gene 1 (NDRG1), classified in databases as a tumor suppressor and heavy metal-response protein, is mutated in hereditary motor and sensory neuropathy Lom (HMSNL), a severe autosomal recessive form of Charcot-Marie-Tooth (CMT) disease. The private founder mutation R148X, causing HMSNL in patients of Romani ethnicity, has so far remained the only molecular defect linking NDRG1 to a specific disease phenotype. Here we report the first study aiming to assess the overall contribution of this gene to the pathogenesis of peripheral neuropathies, in cases where the most common causes of CMT disease have been excluded. Sequence analysis of NDRG1 in 104 CMT patients of diverse ethnicity identified one novel disease-causing mutation, IVS8−1G>A (g.2290787G>A), which affects the splice-acceptor site of IVS8 and results in the skipping of exon 9. The phenotype of the IVS8−1G>A homozygote was very closely related to that of HMSNL patients. In addition, we have detected homozygosity for the known R148X mutation in two affected individuals. Mutations in NDRG1 thus accounted for 2.88% of our overall group of patients, and for 4.68% of cases with demyelinating neuropathies. No other variants were identified in the coding sequence, whereas 12 single nucleotide polymorphisms were observed in the introns. Hum Mutat 22:129–135, 2003. © 2003 Wiley-Liss, Inc. |
تدمد: |
1059-7794 |
URL الوصول: |
https://explore.openaire.eu/search/publication?articleId=doi_________::a07a3bbc5baedd5ccf86783f9ee92ab5 https://doi.org/10.1002/humu.10240 |
حقوق: |
CLOSED |
رقم الأكسشن: |
edsair.doi...........a07a3bbc5baedd5ccf86783f9ee92ab5 |
قاعدة البيانات: |
OpenAIRE |