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

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.

SUBMITTER: Eto K 

PROVIDER: S-EPMC9722650 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature