biostudies-literatureGiannuzzi GSwiss National Science FoundationJacobs FoundationMedical Research Council38https://www.ebi.ac.uk/biostudies/studies/S-EPMC9205872biostudies-literatureUnknown7(1)Recurrent copy-number variations (CNVs) at chromosome 16p11.2 are associated with neurodevelopmental diseases, skeletal system abnormalities, anemia, and genitourinary defects. Among the 40 protein-coding genes encompassed within the rearrangement, some have roles in leukocyte biology and immunodeficiency, like SPN and CORO1A. We therefore investigated leukocyte differential counts and disease in 16p11.2 CNV carriers. In our clinically-recruited cohort, we identified three deletion carriers from two families (out of 32 families assessed) with neutropenia and lymphopenia. They had no deleterious single-nucleotide or indel variant in known cytopenia genes, suggesting a possible causative role of the deletion. Noticeably, all three individuals had the lowest copy number of the human-specific NPJ genomic medicinePossible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.PMC9205872MC_PC_1722818263231003A_182632MC_QA137853Kutalik ZLe Caignec CNuttle XChatron NFerrero GBRenieri ASanlaville DGerard MVincent-Delorme CWillemin GGiannuzzi GCurro APorcu EReymond AJacquemont SMartin S16p11.2 ConsortiumMari FHoekzema KSchluth-Bolard CBrusco ABottani AJacquette AMannik KPradervand SIsidor BHerault YAuwerx CGilbert-Dussardier BChrast JSadler MCNizon MEichler EEWeber SfalsePossible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.Recurrent copy-number variations (CNVs) at chromosome 16p11.2 are associated with neurodevelopmental diseases, skeletal system abnormalities, anemia, and genitourinary defects. Among the 40 protein-coding genes encompassed within the rearrangement, some have roles in leukocyte biology and immunodeficiency, like SPN and CORO1A. We therefore investigated leukocyte differential counts and disease in 16p11.2 CNV carriers. In our clinically-recruited cohort, we identified three deletion carriers from two families (out of 32 families assessed) with neutropenia and lymphopenia. They had no deleterious single-nucleotide or indel variant in known cytopenia genes, suggesting a possible causative role of the deletion. Noticeably, all three individuals had the lowest copy number of the human-specific 2022-01-01T00:00:00Z2022 Jun2026-05-29T14:57:38.141Z2025-02-19T02:57:47.531ZS-EPMC92058723571543910.1038/s41525-022-00308-x