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Congenital Insensitivity to Pain With Anhidrosis (CIPA) : Novel Mutations of the TRKA (NTRK1) Gene, a Putative Uniparental Disomy, and a Linkage of the Mutant TRKA and PKLR Genes in a Family With CIPA and Pyruvate Kinase Deficiency
http://hdl.handle.net/2298/32902
http://hdl.handle.net/2298/3290297b53cc1-36e0-402d-9f5c-19ba6d91b5bf
| 名前 / ファイル | ライセンス | アクション |
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HumMutat_18_4_308-318.pdf (560.1 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
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| 公開日 | 2015-09-01 | |||||
| タイトル | ||||||
| タイトル | Congenital Insensitivity to Pain With Anhidrosis (CIPA) : Novel Mutations of the TRKA (NTRK1) Gene, a Putative Uniparental Disomy, and a Linkage of the Mutant TRKA and PKLR Genes in a Family With CIPA and Pyruvate Kinase Deficiency | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| キーワード | ||||||
| 主題 | congenital insensitivity to pain with anhidrosis, CIPA, TRKA, NTRK1, nerve growth factor, NGF, receptor tyrosine kinase, PKLR, hereditary sensory and autonomic neuropathy type IV, HSAN-IV, pyruvate kinase deficiency | |||||
| 資源タイプ | ||||||
| 資源タイプ | journal article | |||||
| 著者 |
Indo, Yasuhiro
× Indo, Yasuhiro× Mardy, Sek× 三浦, 裕一× Moosa, Allie× Ismail, Essam A.R.× Toscano, Ennio× Andria, Generoso× Pavone, Vito× Brown, Deborah L.× Brooks, Alice× Endo, Fumio× 松田, 一郎 |
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| 別言語の著者 |
犬童, 康弘
× 犬童, 康弘 |
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| 内容記述 | ||||||
| 内容記述 | Congenital insensitivity to pain with anhidrosis is an autosomal recessive hereditary disorder characterized by recurrent episodic fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. The human TRKA gene (NTRK1), located on chromosome 1q21-q22 encodes the receptor tyrosine kinase for nerve growth factor. We reported that TRKA is the gene responsible for CIPA and we developed a comprehensive strategy to screen for TRKA mutations and polymorphisms, as based on the gene's structure and organization. Here we report eight novel mutations detected as either a homozygous or heterozygous state in nine CIPA families from five countries. Mendelian inheritance of the mutations was confirmed in seven families for which samples from either parent were available. However, non-mendelian inheritance seems likely for the family when only samples from the mother and siblings, (but not from the father) were available. A paternal uniparental disomy for chromosome 1 is likely to be the cause of reduction to homozygosity of the TRKA gene mutation in this family. Interestingly, a Hispanic patient from the USA has two autosomal genetic disorders, CIPA and pyruvate kinase deficiency, whose genetic loci are both mapped to a closely linked chromosomal region. A splice mutation and a missense mutation were detected in the TRKA and PKLR genes from the homozygous proband, respectively. Thus, concomitant occurrence of two disorders is ascribed to a combination of two separate mutant genes, not a contiguous gene syndrome. This finding suggests a mechanism responsible for two autosomal genetic disorders in one patient. All these data further support findings that TRKA defects can cause CIPA in various ethnic groups. This will aid in diagnosis and genetic counseling of this painless but severe genetic disorder. Hum Mut 18:308–318, 2001. | |||||
| 書誌情報 |
Human Mutation 巻 18, 号 4, p. 308-318, 発行年 2001-10 |
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| ISSN | ||||||
| 収録物識別子 | 10597794 | |||||
| DOI | ||||||
| 関連タイプ | isVersionOf | |||||
| 関連識別子 | 10.1002/humu.1192 | |||||
| 権利 | ||||||
| 権利情報 | © Wiley-Liss, Inc. | |||||
| フォーマット | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | application/pdf | |||||
| 形態 | ||||||
| 560095 bytes | ||||||
| 著者版フラグ | ||||||
| 出版タイプ | AM | |||||
| 日本十進分類法 | ||||||
| 主題Scheme | NDC | |||||
| 主題 | 467 | |||||
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| 出版者 | Wiley-Liss | |||||
| 資源タイプ | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | 論文(Article) | |||||
| 資源タイプ・ローカル | ||||||
| 雑誌掲載論文 | ||||||
| 資源タイプ・NII | ||||||
| Journal Article | ||||||
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| 資源タイプ・ローカル表示コード | ||||||
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| URL | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | http://onlinelibrary.wiley.com/doi/10.1002/humu.1192/abstract | |||||
