Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex
| Autor: | Toshiyuki Yamamoto, Hiromasa Takeda, Haruaki Ninomiya, Kousaku Ohno, Jian-Hua Feng, Judy R. Pipo, Eiji Nanba |
|---|---|
| Rok vydání: | 2002 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty media_common.quotation_subject Nonsense Mutation Missense Tuberous Sclerosis Complex 1 Protein Exon Tuberous sclerosis Epilepsy Developmental Neuroscience Japan Tuberous Sclerosis Tuberous Sclerosis Complex 2 Protein Medicine Missense mutation Humans Child media_common Genetics business.industry Tumor Suppressor Proteins Infant Proteins General Medicine Exons medicine.disease Introns nervous system diseases Tuberous sclerosis protein Repressor Proteins medicine.anatomical_structure Codon Nonsense Child Preschool Pediatrics Perinatology and Child Health Female Neurology (clinical) TSC1 TSC2 business |
| Zdroj: | Braindevelopment. 24(4) |
| ISSN: | 0387-7604 |
| Popis: | Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome characterized by development of unusual tumor-like growths. Involvement of the brain is associated with the most problematic clinical manifestations of TSC, including intellectual retardation, epilepsy and abnormal behaviors. Until now, over 300 mutations of TSC1 and TSC2 were reported. Here, we report one novel mutation of TSC1 (Q897X) and five novel mutations of TSC2 (c.336+1 G>A, L345R, E700K, R905G, K914K) identified in Japanese patients with TSC. We also identified three new polymorphisms in TSC2 (N331N, A431A, S802G). The TSC1 mutation was predicted to cause a nonsense substitution whereas all of the five TSC2 mutations were predicted to cause either a splicing error or a missense substitution. In accordance with previous findings, the patients with TSC1 mutations had milder clinical manifestations than those with TSC2 mutations. |
| Databáze: | OpenAIRE |
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