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

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作者：
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
机构：
[1] Tokyo Women’s Medical University,Department of Pediatrics
[2] Tokyo Women’s Medical University Graduate School of Medicine,Division of Gene Medicine
[3] Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell Processing
[4] Tokyo Women’s Medical University,Department of Neurosurgery
[5] Tokyo Women’s Medical University,Department of Plastic and Reconstructive Surgery
[6] Osaka University Graduate School of Medicine,Department of Cardiovascular Medicine
[7] National Cerebral and Cardiovascular Center,Department of Genomic Medicine
[8] Tokyo Women’s Medical University,Institute of Medical Genetics
来源：
Human Genome Variation | / 9卷
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摘要：
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.
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