PBX1 encodes the pre‐B cell leukemia homeobox transcription factor, a three amino acid loop extension (TALE) homeodomain transcription factor, which forms nuclear complexes with other TALE class homeodomain proteins that ultimately regulate target genes controlling organ patterning during embryogenesis. Heterozygous de novo pathogenic variants in PBX1 resulting in haploinsufficiency are associated with congenital anomalies of the kidneys and urinary tract, most commonly renal hypoplasia, as well as anomalies involving the external ear, branchial arch, heart, and genitalia, and they cause intellectual disability and developmental delay. Affected individuals described thus far have had de novo variants. Here, we report three related individuals with an inherited pathogenic intragenic PBX1 deletion with variable clinical features typical for this syndrome.

中文翻译：

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遗传内基因PBX1缺失：扩展表型

PBX1编码前B细胞白血病同源盒转录因子，这是一种三氨基酸环延伸（TALE）同源域转录因子，它与其他TALE类同源域蛋白形成核复合物，最终调节目标基因，从而控制胚胎发生过程中的器官模式。PBX1中的新杂合病原性变异导致单倍体功能不全与肾脏和泌尿系统的先天性异常（最常见的是肾发育不全）以及涉及外耳，arch弓，心脏和生殖器的异常有关，它们导致智力残疾和发展迟缓。迄今为止描述的受影响个体具有从头变异。在这里，我们报告了三个具有遗传性致病基因的相关个体PBX1缺失，具有该综合征典型的可变临床特征。