@article{oai:hama-med.repo.nii.ac.jp:00003790,
 author = {Miyamoto, Sachiko and Kato, Mitsuhiro and Hiraide, Takuya and Shiohama, Tadashi and Goto, Tomohide and Hojo, Akira and Ebata, Akio and Suzuki, Manabu and Kobayashi, Kozue and Chong, Pin Fee and Kira, Ryutaro and Baber Matsushita, Hiroko and Ikeda, Hiroko and Hoshino, Kyoko and Matsufuji, Mayumi and Moriyama, Nobuko and Furuyama, Masayuki and Yamamoto, Tatsuya and Nakashima, Mitsuko and Saitsu, Hirotomo},
 issue = {11},
 journal = {Journal of Human Genetics},
 month = {Nov},
 note = {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.},
 pages = {1061--1068},
 title = {Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies},
 volume = {66},
 year = {2021}
}