| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2021-11-01 |
| タイトル |
|
|
タイトル |
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| キーワード |
|
|
主題 |
Corpus callosum anomaly |
| キーワード |
|
|
主題 |
colpocephaly |
| キーワード |
|
|
主題 |
copy number variants |
| キーワード |
|
|
主題 |
somatic mosaicism |
| キーワード |
|
|
主題 |
whole exome sequencing |
| 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 |
Miyamoto, Sachiko
Kato, Mitsuhiro
Hiraide, Takuya
Shiohama, Tadashi
Goto, Tomohide
Hojo, Akira
Ebata, Akio
Suzuki, Manabu
Kobayashi, Kozue
Chong, Pin Fee
Kira, Ryutaro
Baber Matsushita, Hiroko
Ikeda, Hiroko
Hoshino, Kyoko
Matsufuji, Mayumi
Moriyama, Nobuko
Furuyama, Masayuki
Yamamoto, Tatsuya
Nakashima, Mitsuko
Saitsu, Hirotomo
|
| 書誌情報 |
Journal of Human Genetics
巻 66,
号 11,
p. 1061-1068,
発行日 2021-11
|
| 出版者 |
|
|
出版者 |
Springer Nature |
| 権利 |
|
|
権利情報 |
"This is a post-peer-review, pre-copyedit version of an article published in ""Journal of Human Genetics"". The final authenticated version is available online at: http://dx.doi.org/10.1038/s10038-021-00932-y." |
| 抄録 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
Corpus callosum anomalies (CCA) is a common congenital brain anomaly with various etiologies. Although one of the most important etiologies is genetic factors, the genetic background of CCA is heterogenous and diverse types of variants are likely to be causative. In this study, we analyzed 16 Japanese patients with corpus callosum anomalies to delineate clinical features and the genetic background of CCAs. We observed the common phenotypes accompanied by CCAs: intellectual disability (100%), motor developmental delay (93.8%), seizures (60%), and facial dysmorphisms (50%). Brain magnetic resonance imaging showed colpocephaly (enlarged posterior horn of the lateral ventricles, 84.6%) and enlarged supracerebellar cistern (41.7%). Whole exome sequencing revealed genetic alterations in 9 of the 16 patients (56.3%), including 8 de novo alterations (2 copy number variants and variants in ARID1B, CDK8, HIVEP2, and TCF4) and a recessive variant of TBCK. De novo ARID1B variants were identified in three unrelated individuals, suggesting that ARID1B variants are major genetic causes of CCAs. A de novo TCF4 variant and somatic mosaic deletion at 18q21.31-qter encompassing TCF4 suggest an association of TCF4 abnormalities with CCAs. This study to analyze CCA patients using whole exome sequencing, demonstrating that comprehensive genetic analysis would be useful for investigating various causal variants of CCAs. |
| 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 |
33958710 |
| 出版社DOI |
|
|
関連タイプ |
isVersionOf |
|
|
識別子タイプ |
DOI |
|
|
関連識別子 |
10.1038/s10038-021-00932-y |
| 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 |
JHG-66-1061.pdf (2.4 MB)
