Broad phenotypic spectrum of germ line 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia.
Proximal deletions of the short arm of chromosome 7 are uncommon. The authors report two Polish patients with deletions 7p13p12.1 (in a girl) and 7p11.2p12.2 (in a boy). Clinical manifestations in the girl included developmental delay (DD), seizures and underdevelopment of the corpus callosum. The boy who had DD, epilepsy and autism developed acute lymphoblastic leukemia (ALL). Deletions in both children included the IKZF1 gene, located at 7p12.1. This gene is known as predisposing to ALL. Analysis of previously known patients with deletions involving the IKZF1 gene (published or obtained from collections of unpublished patients like Decipher or ISCA [International Standards for Cytogenomic Arrays]) showed several more patients with deletions of this area who had acute lymphoblastic leukemia. The wide range of additional clinical manifestations depends on the spectrum of the other lost genes. Although deletion of the IKZF1 gene is a significant risk factor for ALL, most patients do not develop ALL. The authors calculated the risk for acute lymphoblastic leukemia for someone with a deletion of the IKZF1 as 26%. [The actual risk may even be less because ALL (as any other unusual manifestation) may be a factor for the preferential publication of a particular patient; neither of the patients obtained from Decipher or ISCA had ALL].
Pastorczak A. et al. “Broad phenotypic spectrum of germ line 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia”. “Genes, Chromosomes and Cancer”, 2021, v. 60 (2), 79-87.
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