학술논문
Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis
Document Type
article
Author
Source
Human Genome Variation, Vol 9, Iss 1, Pp 1-5 (2022)
Subject
Language
English
ISSN
2054-345X
Abstract
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.