| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2022-07-09 |
| タイトル |
|
|
タイトル |
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| キーワード |
|
|
主題 |
X-linked dominant chondrodysplasia punctata |
| キーワード |
|
|
主題 |
EBP |
| キーワード |
|
|
主題 |
whole genome sequencing |
| キーワード |
|
|
主題 |
retrotransposition |
| 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 |
| 著者 |
Hiraide, Takuya
Masunaga, Yohei
Honda, Akira
Kato, Fumiko
Fukuda, Tokiko
Fukami, Maki
Nakashima, Mitsuko
Saitsu, Hirotomo
Ogata, Tsutomu
|
| 書誌情報 |
Journal of Human Genetics
巻 67,
号 5,
p. 303-306,
発行日 2022-01
|
| 出版者 |
|
|
出版者 |
Springer Nature |
| 権利 |
|
|
権利情報 |
This version of the article has been accepted for publication, after peer review (when applicable) and is subject to Springer Nature’s AM terms of use, but is not the Version of Record and does not reflect post-acceptance improvements, or any corrections. The Version of Record is available online at: https://doi.org/10.1038/s10038-021-01000-1 |
| 抄録 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
X-linked dominant chondrodysplasia punctata (CDPX2) is a rare congenital disorder caused by pathogenic variants in EBP on Xp11.23. We encountered a girl and her mother with CDPX2-compatible phenotypes including punctiform calcification in the neonatal period of the girl, and asymmetric limb shortening and ichthyosis following the Blaschko lines in both subjects. Although Sanger direct sequencing failed to reveal a disease-causing variant in EBP, whole genome sequencing (WGS) followed by Manta analysis identified a ~ 4.5 kb insertion at EBP exon 2 of both subjects. The insertion was associated with the hallmarks of retrotransposition such as an antisense poly(A) tail, a target site duplication, and a consensus endonuclease cleavage site, and the inserted sequence harbored full-length SVA_F1 element with 5′- and 3′-transductions containing the Alu sequence. The results imply the relevance of retrotransposition to the human genetic diseases and the usefulness of WGS in the identification of retrotransposition. |
| ISSN |
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|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
1434-5161 |
| EISSN |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
1435-232X |
| PubMed番号 |
|
|
関連タイプ |
isVersionOf |
|
|
識別子タイプ |
PMID |
|
|
関連識別子 |
34999728 |
| 出版社DOI |
|
|
関連タイプ |
isVersionOf |
|
|
識別子タイプ |
DOI |
|
|
関連識別子 |
10.1038/s10038-021-01000-1 |
| 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 |
J Hum Genet-67-303.pdf (1.2 MB)
