Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis

Kaoru Eto; Osamu Machida; Tomoe Yanagishita; Keiko Shimojima Yamamoto; Kentaro Chiba; Yasuo Aihara; Yuuki Hasegawa; Miho Nagata; Yasuki Ishihara; Yohei Miyashita; Yoshihiro Asano; Satoru Nagata; Toshiyuki Yamamoto

doi:10.1038/s41439-022-00220-x

Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis

Hum Genome Var. 2022 Dec 5;9(1):43. doi: 10.1038/s41439-022-00220-x.

Authors

Kaoru Eto¹, Osamu Machida^{1

2}, Tomoe Yanagishita¹, Keiko Shimojima Yamamoto³, Kentaro Chiba⁴, Yasuo Aihara⁴, Yuuki Hasegawa⁵, Miho Nagata⁶, Yasuki Ishihara⁶, Yohei Miyashita^{6

7}, Yoshihiro Asano^{6

7}, Satoru Nagata¹, Toshiyuki Yamamoto^{8

9}

Affiliations

¹ Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
² Division of Gene Medicine, Tokyo Women's Medical University Graduate School of Medicine, Tokyo, Japan.
³ Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan.
⁴ Department of Neurosurgery, Tokyo Women's Medical University, Tokyo, Japan.
⁵ Department of Plastic and Reconstructive Surgery, Tokyo Women's Medical University, Tokyo, Japan.
⁶ Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Suita, Japan.
⁷ Department of Genomic Medicine, National Cerebral and Cardiovascular Center, Suita, Japan.
⁸ Division of Gene Medicine, Tokyo Women's Medical University Graduate School of Medicine, Tokyo, Japan. yamamoto.toshiyuki@twmu.ac.jp.
⁹ Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. yamamoto.toshiyuki@twmu.ac.jp.

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.