Broad phenotypic spectrum of germ line 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia

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 childhoo...

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Bibliographic Details
Published in:	Genes chromosomes & cancer Vol. 60; no. 2; pp. 79 - 87
Main Authors:	Pastorczak, Agata, Hogendorf, Anna, Urbanska, Zuzanna, Budzynska, Edyta, Jesionek‐Kupnicka, Dorota, Gach, Agnieszka, Hawula, Wanda, Smigiel, Robert, Skiba, Pawel, Sasiadek, Maria, Lejman, Monika, Constatinou, Maria, Lipska‐Ziętkiewicz, Beata S., Mlynarski, Wojciech
Format:	Journal Article
Language:	English
Published:	Hoboken, USA John Wiley & Sons, Inc 01-02-2021 Wiley Subscription Services, Inc
Subjects:	Acute lymphoblastic leukemia Child Child, Preschool Children Chromosome Deletion Chromosomes, Human, Pair 7 - genetics Congenital defects Craniofacial Abnormalities - genetics Craniofacial Abnormalities - pathology Developmental Disabilities - genetics Developmental Disabilities - pathology DNA microarrays Female genetic predisposition Haploinsufficiency Humans Ikaros Transcription Factor - genetics IKZF1 Intellectual disabilities Leukemia Lymphatic leukemia Male microdeletion Phenotype Phenotypes Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics Precursor Cell Lymphoblastic Leukemia-Lymphoma - pathology genetic predisposition IKZF1 acute lymphoblastic leukemia microdeletion
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Summary:	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.
Bibliography:	Funding information European Cooperation in Science and Technology, Grant/Award Number: CA16223; Polpharma Scientific Foundation, Grant/Award Number: 4/19/IX/1 ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	1045-2257 1098-2264
DOI:	10.1002/gcc.22914