Cited by 147Hemoglobinopathies and Related DisordersGenetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

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BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

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Basak, Anindita, Hancarova, Miroslava, Ulirsch, Jacob C., Balci, Tugce B., Trkova, Marie, Pelisek, Michal, Vlckova, Marketa, Muzikova, Katerina, Cermak, Jaroslav, Trka, Jan, Dyment, David A., Orkin, Stuart H., Daly, Mark J., Sedlacek, Zdenek, Sankaran, Vijay G.·2015·Journal of Clinical Investigation

DOI 10.1172/jci81163PMC PMC4497765

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Abstract

A transition from fetal hemoglobin (HbF) to adult hemoglobin (HbA) normally occurs within a few months after birth. Increased production of HbF after this period of infancy ameliorates clinical symptoms of the major disorders of adult β-hemoglobin: β-thalassemia and sickle cell disease. The transcription factor BCL11A silences HbF and has been an attractive therapeutic target for increasing HbF levels; however, it is not clear to what extent BCL11A inhibits HbF production or mediates other developmental functions in humans. Here, we identified and characterized 3 patients with rare microdeletions of 2p15-p16.1 who presented with an autism spectrum disorder and developmental delay. Moreover, these patients all exhibited substantial persistence of HbF but otherwise retained apparently normal hematologic and immunologic function. Of the genes within 2p15-p16.1, only BCL11A was commonly deleted in all of the patients. Evaluation of gene expression data sets from developing and adult human brains revealed that BCL11A expression patterns are similar to other genes associated with neurodevelopmental disorders. Additionally, common SNPs within the second intron of BCL11A are strongly associated with schizophrenia. Together, the study of these rare patients and orthogonal genetic data demonstrates that BCL11A plays a central role in silencing HbF in humans and implicates BCL11A as an important factor for neurodevelopment.

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Authors: Basak, A., Hancarova, M., Ulirsch, J. C., Balci, T. B., Trkova, M., Pelisek, M., Vlckova, M., Muzikova, K., Cermak, J., Trka, J., Dyment, D. A., Orkin, S. H., Daly, M. J., Sedlacek, Z., & Sankaran, V. G.
Affiliations: Broad Institute (US)
Strakonice Hospital (CZ)
Charles University (CZ)
University of Ottawa (CA)
Boston Children's Hospital (US)
ORCID: Basak, Anindita
Ulirsch, Jacob C.
Trka, Jan
Dyment, David A.
Orkin, Stuart H.
Daly, Mark J.
Sankaran, Vijay G.
Venue: Journal of Clinical Investigation
Publisher: American Society for Clinical Investigation
Published: 2015-05-04
Volume: 125
Issue: 6
Pages: 2363-2368
ISSN: 0021-9738 (ISSN-L)
DOI: 10.1172/jci81163
PMC: PMC4497765
OpenAlex: W2127724005
Cited by: 147
References: 24
Citations by year: 2026: 6 · 2025: 7 · 2024: 12 · 2023: 15 · 2022: 6 · 2021: 16 · 2020: 14 · 2019: 15 · 2018: 17 · 2017: 16 · 2016: 18 · 2015: 5
FWCI: 10.45
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Journal of Clinical Investigation (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Scholarship@Western (Western University) (submittedVersion)
Funders: Univerzita Karlova v Praze (00064203)
National Institutes of Health
National Heart, Lung, and Blood Institute (R01HL032259, U01HL117720, R21HL120791)
National Institute of Diabetes and Digestive and Kidney Diseases (R01DK103794)
Topics: Health Sciences › Medicine › Genetics (clinical) › Hemoglobinopathies and Related Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Keywords: BCL11A, autism spectrum disorder, developmental delay, brain development, schizophrenia susceptibility, intronic SNPs, beta-thalassemia, sickle cell disease, brain gene expression
MeSH terms: Adult, Base Sequence, Carrier Proteins, Child, Child Development Disorders, Pervasive, Child, Preschool, Fetal Hemoglobin, Gene Expression Regulation, Humans, Infant, Introns, Male, Nuclear Proteins, Repressor Proteins, Schizophrenia, Sequence Deletion, Polymorphism, Single Nucleotide

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BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

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