PDF(Pubmed)
Abstract：
Heterozygous disease-causing variants in BCL11B are the basis of a rare neurodevelopmental syndrome with craniofacial and immunological involvement. Isolated craniosynostosis, without systemic or immunological findings, has been reported in one of the 17 individuals reported with this disorder till date. We report three additional individuals harboring de novo heterozygous frameshift variants, all lying in the exon 4 of BCL11B. All three individuals presented with the common findings of this disorder i.e. developmental delay, recurrent infections with immunologic abnormalities and facial dysmorphism. Notably, craniosynostosis of variable degree was seen in all three individuals. We, thus add to the evolving genotypes and phenotypes of BCL11B-related BAFopathy and also review the clinical, genomic spectrum along with the underlying disease mechanisms of this disorder.
摘要：
BCL11B中的杂合致病变异是罕见的神经发育综合征的基础，涉及颅面和免疫。孤立性颅骨融合,没有全身或免疫学发现，到目前为止，已经在17名报告患有这种疾病的人中报告了一人。我们报告了另外三个具有从头杂合移码变体的个体，全部位于BCL11B的第4外显子.所有三个人都提出了这种疾病的共同发现，即发育迟缓，免疫异常和面部畸形的复发性感染。值得注意的是,在所有三个个体中都观察到不同程度的颅骨融合。我们,因此增加了BCL11B相关BAF病的不断发展的基因型和表型，并回顾了临床，基因组谱以及这种疾病的潜在疾病机制。
