دورية أكاديمية
The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings.
| العنوان: | The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings. |
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| المؤلفون: | Devon RS; Department of Medical Genetics, University of British Columbia, and Children and Women's Hospital, Vancouver, British Columbia, Canada., Helm JR, Rouleau GA, Leitner Y, Lerman-Sagie T, Lev D, Hayden MR |
| المصدر: | Clinical genetics [Clin Genet] 2003 Sep; Vol. 64 (3), pp. 210-5. |
| نوع المنشور: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Print ISSN: 0009-9163 (Print) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Copenhagen, Munksgaard. |
| مواضيع طبية MeSH: | Codon, Nonsense*, Pseudobulbar Palsy/*genetics , Spastic Paraplegia, Hereditary/*genetics, Age of Onset ; Consanguinity ; Exons/genetics ; Female ; Humans ; Infant ; Intellectual Disability/genetics ; Jews/genetics ; Pedigree ; Phenotype ; Protein Isoforms/genetics ; Protein Structure, Tertiary ; Pseudobulbar Palsy/pathology ; Spastic Paraplegia, Hereditary/epidemiology ; Spastic Paraplegia, Hereditary/pathology |
| مستخلص: | Eight mutations in the ALS2 gene have been described as causing autosomal-recessive juvenile-onset forms of the motor neuron diseases amyotrophic lateral sclerosis, primary lateral sclerosis and hereditary spastic paraplegia. All mutations are small deletions that are predicted to result in a frameshift and premature truncation of the alsin protein. Here we describe a ninth ALS2 mutation, in two siblings affected by infantile-onset ascending spastic paraplegia with bulbar involvement. This mutation is predicted to result in the substitution of an amino acid by a stop codon, and thus is the first nonsense mutation detected in this gene. It is probable that full-length alsin is required for the proper development and/or functioning of upper motor neurons. |
| المشرفين على المادة: | 0 (Codon, Nonsense) 0 (Protein Isoforms) |
| تواريخ الأحداث: | Date Created: 20030816 Date Completed: 20040415 Latest Revision: 20190816 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1034/j.1399-0004.2003.00138.x |
| PMID: | 12919135 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 0009-9163 |
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| DOI: | 10.1034/j.1399-0004.2003.00138.x |