Abstract

Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities (MIM # 618092) is a congenital disorder derived from pathogenic variants of the B-cell leukemia/lymphoma 11B gene (BCL11B). Several variants have been reported to date. Here, through comprehensive genomic analysis, a novel BCL11B truncation variant, NM_138576.4(BCL11B_v001): c.2439_2452dup [p.(His818Argfs*31)], was identified in a Japanese male patient with developmental delay, distinctive features, and early craniosynostosis.

Details

Title
Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis
Author
Eto, Kaoru 1 ; Machida, Osamu 2 ; Yanagishita, Tomoe 1 ; Shimojima Yamamoto, Keiko 3   VIAFID ORCID Logo  ; Chiba, Kentaro 4 ; Aihara, Yasuo 4 ; Hasegawa, Yuuki 5 ; Nagata, Miho 6 ; Ishihara, Yasuki 6   VIAFID ORCID Logo  ; Miyashita, Yohei 7 ; Asano, Yoshihiro 7 ; Nagata, Satoru 1 ; Yamamoto, Toshiyuki 8   VIAFID ORCID Logo 

1  Tokyo Women’s Medical University, Department of Pediatrics, Tokyo, Japan (GRID:grid.410818.4) (ISNI:0000 0001 0720 6587) 
2  Tokyo Women’s Medical University, Department of Pediatrics, Tokyo, Japan (GRID:grid.410818.4) (ISNI:0000 0001 0720 6587); Tokyo Women’s Medical University Graduate School of Medicine, Division of Gene Medicine, Tokyo, Japan (GRID:grid.410818.4) (ISNI:0000 0001 0720 6587) 
3  Tokyo Women’s Medical University, Department of Transfusion Medicine and Cell Processing, Tokyo, Japan (GRID:grid.410818.4) (ISNI:0000 0001 0720 6587) 
4  Tokyo Women’s Medical University, Department of Neurosurgery, Tokyo, Japan (GRID:grid.410818.4) (ISNI:0000 0001 0720 6587) 
5  Tokyo Women’s Medical University, Department of Plastic and Reconstructive Surgery, Tokyo, Japan (GRID:grid.410818.4) (ISNI:0000 0001 0720 6587) 
6  Osaka University Graduate School of Medicine, Department of Cardiovascular Medicine, Suita, Japan (GRID:grid.136593.b) (ISNI:0000 0004 0373 3971) 
7  Osaka University Graduate School of Medicine, Department of Cardiovascular Medicine, Suita, Japan (GRID:grid.136593.b) (ISNI:0000 0004 0373 3971); National Cerebral and Cardiovascular Center, Department of Genomic Medicine, Suita, Japan (GRID:grid.410796.d) (ISNI:0000 0004 0378 8307) 
8  Tokyo Women’s Medical University Graduate School of Medicine, Division of Gene Medicine, Tokyo, Japan (GRID:grid.410818.4) (ISNI:0000 0001 0720 6587); Tokyo Women’s Medical University, Institute of Medical Genetics, Tokyo, Japan (GRID:grid.410818.4) (ISNI:0000 0001 0720 6587) 
Pages
43
Publication year
2022
Publication date
2022
Publisher
Springer Nature B.V.
e-ISSN
2054345X
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41439-022-00220-x
ProQuest document ID
2746829812
Copyright
© The Author(s) 2022. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.