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Updated: Aug 18, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early
Kaoru Eto1, Osamu Machida1,2, Tomoe Yanagishita1
1Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
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.
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