Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland.
Department of Pediatrics, Diabetology, Endocrinology and Nephrology, Medical University of Lodz, Lodz, Poland.
Genes Chromosomes Cancer. 2021 Feb;60(2):79-87. doi: 10.1002/gcc.22914. Epub 2020 Nov 18.
Microdeletions of 7p12.1 encompassing the IKZF1 gene locus are rare, with few cases reported. The common phenotype includes intellectual disability, overgrowth, and facial dysmorphism accompanied, albeit rarely, by congenital anomalies. Haploinsufficiency of IKZF1 predisposes individuals to childhood acute lymphoblastic leukemia (ALL). In this study, we comprehensively analyzed the frequency of 7p12.1 deletions among 4581 Polish individuals who underwent chromosomal microarray testing for unexplained developmental delay, intellectual disability, and/or congenital anomalies. Two unrelated individuals (0.04%) with a de novo interstitial 7p12.1 microdeletion encompassing IKZF1 were identified. One developed ALL. Analysis of the incidence and the phenotype of constitutional 7p12.1 microdeletion, which based on the previously annotated patients data in public databases and literature reports, revealed 21 cases including five patients diagnosed with ALL.
7p12.1 微缺失，包括 IKZF1 基因座，是罕见的，仅有少数病例报道。常见的表型包括智力残疾、生长过度和面部畸形，尽管很少伴有先天性异常。IKZF1 的单倍不足使个体易患儿童急性淋巴细胞白血病（ALL）。在这项研究中，我们全面分析了在 4581 名因不明原因的发育迟缓、智力残疾和/或先天性异常而接受染色体微阵列检测的波兰个体中 7p12.1 缺失的频率。发现了两个无关的个体（0.04%）存在新发的 7p12.1 微缺失，包含 IKZF1。其中一个患有 ALL。基于先前在公共数据库和文献报告中注释的患者数据，对构成性 7p12.1 微缺失的发生率和表型进行了分析，共发现 21 例，包括 5 例 ALL 患者。
