| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2022-03-01 |
| タイトル |
|
|
タイトル |
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing |
| 言語 |
|
|
言語 |
eng |
| キーワード |
|
|
主題 |
Whole-exome sequencing |
| キーワード |
|
|
主題 |
Intellectual disability |
| キーワード |
|
|
主題 |
Developmental delay |
| キーワード |
|
|
主題 |
Autism spectrum disorder |
| キーワード |
|
|
主題 |
External ear anomalies |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| その他のタイトル |
|
|
その他のタイトル |
Trio-WES for DD/ID |
| 著者 |
Hiraide, Takuya
Yamoto, Kaori
Masunaga, Yohei
Asahina, Miki
Endoh, Yusaku
Ohkubo, Yumiko
Matsubayashi, Tomoko
Tsurui, Satoshi
Yamada, Hidetaka
Yanagi, Kumiko
Nakashima, Mitsuko
Hirano, Kouichi
Sugimura, Haruhiko
Fukuda, Tokiko
Ogata, Tsutomu
Saitsu, Hirotomo
|
| 書誌情報 |
Clinical Genetics
巻 100,
号 1,
p. 40-50,
発行日 2021-07
|
| 出版者 |
|
|
出版者 |
John Wiley and Sons |
| 権利 |
|
|
権利情報 |
This is the peer reviewed version of the following article: "Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing", Clinical Genetics; 100(1): p40-50, 2021, which has been published in final form at https://doi.org/10.1111/cge.13951. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages thereof by third parties from platforms, services and websites other than Wiley Online Library must be prohibited. |
| 抄録 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
Whole-exome sequencing (WES) enables identification of pathogenic variants, including copy number variants (CNVs). In this study, we performed WES in 101 Japanese patients with unexplained developmental delay (DD) or intellectual disability (ID) (63 males and 38 females), 98 of them with trio-WES. Pathogenic variants were identified in 54 cases (53.5%), including four cases with pathogenic CNVs. In one case, a pathogenic variant was identified by reanalysis of exome data; and in two cases, two molecular diagnoses were identified. Among 58 pathogenic variants, 49 variants occurred de novo in 48 patients, including two somatic variants. The accompanying autism spectrum disorder and external ear anomalies were associated with detection of pathogenic variants with odds ratios of 11.88 (95% confidence interval (CI) 2.52–56.00) and 3.46 (95% CI 1.23–9.73), respectively. These findings revealed the importance of reanalysis of WES data and detection of CNVs and somatic variants in increasing the diagnostic yield for unexplained DD/ID. In addition, genetic testing is recommended when patients suffer from the autism spectrum disorder or external ear anomalies, which potentially suggests the involvement of genetic factors associated with gene expression regulation. |
| ISSN |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
0009-9163 |
| EISSN |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
1399-0004 |
| PubMed番号 |
|
|
関連タイプ |
isVersionOf |
|
|
識別子タイプ |
PMID |
|
|
関連識別子 |
33644862 |
| 出版社DOI |
|
|
関連タイプ |
isVersionOf |
|
|
識別子タイプ |
DOI |
|
|
関連識別子 |
10.1111/cge.13951 |
| 著者版フラグ |
|
|
出版タイプ |
AM |
|
出版タイプResource |
http://purl.org/coar/version/c_ab4af688f83e57aa |
Clin.Genet.-100-40.pdf (1.7 MB)
