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著作: [松立 吉弘]/[成戸 卓也]/林 裕美子/南 満芳/藤山 幹子/横田 憲二/山田 大資/[井本 逸勢]/[久保 宜明]/Target exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome/[Journal of Dermatological Science]

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EID
326997
EOID
911992
Map
0
LastModified
2018年7月2日(月) 14:09:12
Operator
大家 隆弘
Avail
TRUE
Censor
0
Owner
松立 吉弘
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種別 必須 学術論文(審査論文)
言語 必須 英語
招待 推奨
審査 推奨
カテゴリ 推奨
共著種別 推奨
学究種別 推奨
組織 推奨
著者 必須
  1. 松立 吉弘
    役割 任意
    貢献度 任意
    学籍番号 推奨
  2. 成戸 卓也
    役割 任意
    貢献度 任意
    学籍番号 推奨
  3. (英) Hayashi Yumiko / (日) 林 裕美子 / (読) はやし ゆみこ
    役割 任意
    貢献度 任意
    学籍番号 推奨
  4. (英) Minami Mitsuyoshi / (日) 南 満芳 / (読) みなみ みつよし
    役割 任意
    貢献度 任意
    学籍番号 推奨
  5. (英) Tohyama Mikiko / (日) 藤山 幹子 / (読) とうやま みきこ
    役割 任意
    貢献度 任意
    学籍番号 推奨
  6. (英) Yokota Kenji / (日) 横田 憲二 / (読) よこた けんじ
    役割 任意
    貢献度 任意
    学籍番号 推奨
  7. (英) Yamada Daisuke / (日) 山田 大資 / (読) やまだ だいすけ
    役割 任意
    貢献度 任意
    学籍番号 推奨
  8. 井本 逸勢
    役割 任意
    貢献度 任意
    学籍番号 推奨
  9. 久保 宜明([徳島大学.大学院医歯薬学研究部.医学域.医科学部門.内科系.皮膚科学])
    役割 任意
    貢献度 任意
    学籍番号 推奨
題名 必須

(英) Target exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome

副題 任意
要約 任意

(英) Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder mainly caused by heterozygous mutations of PTCH1. In addition to characteristic clinical features, detection of a mutation in causative genes is reliable for the diagnosis of NBCCS; however, no mutations have been identified in some patients using conventional methods. To improve the method for the molecular diagnosis of NBCCS. We performed targeted exome sequencing (TES) analysis using a multi-gene panel, including PTCH1, PTCH2, SUFU, and other sonic hedgehog signaling pathway-related genes, based on next-generation sequencing (NGS) technology in 8 cases in whom possible causative mutations were not detected by previously performed conventional analysis and 2 recent cases of NBCCS. Subsequent analysis of gross deletion within or around PTCH1 detected by TES was performed using chromosomal microarray (CMA). Through TES analysis, specific single nucleotide variants or small indels of PTCH1 causing inferred amino acid changes were identified in 2 novel cases and 2 undiagnosed cases, whereas gross deletions within or around PTCH1, which are validated by CMA, were found in 3 undiagnosed cases. However, no mutations were detected even by TES in 3 cases. Among 3 cases with gross deletions of PTCH1, deletions containing the entire PTCH1 and additional neighboring genes were detected in 2 cases, one of which exhibited atypical clinical features, such as severe mental retardation, likely associated with genes located within the 4.3Mb deleted region, especially. TES-based simultaneous evaluation of sequences and copy number status in all targeted coding exons by NGS is likely to be more useful for the molecular diagnosis of NBCCS than conventional methods. CMA is recommended as a subsequent analysis for validation and detailed mapping of deleted regions, which may explain the atypical clinical features of NBCCS cases.

キーワード 推奨
  1. (英) Adolescent
  2. (英) Adult
  3. (英) Basal Cell Nevus Syndrome
  4. (英) Biomarkers, Tumor
  5. (英) Chromosomes, Human
  6. (英) Computational Biology
  7. (英) DNA Copy Number Variations
  8. (英) DNA Mutational Analysis
  9. (英) Exome
  10. (英) Female
  11. (英) Gene Dosage
  12. (英) Genetic Predisposition to Disease
  13. (英) High-Throughput Nucleotide Sequencing
  14. (英) Humans
  15. (英) INDEL Mutation
  16. (英) Male
  17. (英) Middle Aged
  18. (英) Molecular Diagnostic Techniques
  19. (英) Oligonucleotide Array Sequence Analysis
  20. (英) Phenotype
  21. (英) Polymorphism, Single Nucleotide
  22. (英) Predictive Value of Tests
  23. (英) Reproducibility of Results
  24. (英) Young Adult
発行所 推奨
誌名 必須 Journal of Dermatological Science(日本研究皮膚科学会)
(pISSN: 0923-1811, eISSN: 1873-569X)
ISSN 任意 1873-569X
ISSN: 0923-1811 (pISSN: 0923-1811, eISSN: 1873-569X)
Title: Journal of dermatological science
Title(ISO): J Dermatol Sci
Publisher: Elsevier Ireland Ltd
 (NLM Catalog  (医中誌Web  (Scopus  (CrossRef (Scopus information is found. [need login])
必須 86
必須 3
必須 206 211
都市 任意
年月日 必須 2017年 6月 初日
URL 任意
DOI 任意 10.1016/j.jdermsci.2017.02.282    (→Scopusで検索)
PMID 任意 28342698    (→Scopusで検索)
CRID 任意
WOS 任意
Scopus 任意 2-s2.0-85015941648
評価値 任意
被引用数 任意
指導教員 推奨
備考 任意
  1. (英) Article.ELocationID: S0923-1811(17)30073-7

  2. (英) Article.ELocationID: 10.1016/j.jdermsci.2017.02.282

  3. (英) Article.PublicationTypeList.PublicationType: Case Reports

  4. (英) Article.PublicationTypeList.PublicationType: Journal Article

  5. (英) KeywordList.Keyword: Chromosomal microarray

  6. (英) KeywordList.Keyword: Nevoid basal cell carcinoma syndrome

  7. (英) KeywordList.Keyword: Next-generation sequencing

  8. (英) KeywordList.Keyword: PTCH1

  9. (英) KeywordList.Keyword: Targeted exome sequencing