ArticleAmerican journal of human genetics2018
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
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Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 66 citations in OpenAlex.
- Combined family-based association and linkage analyses in families affected by attention-deficit hyperactivity disorder.Human genetics · 2026Pooled it
- Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.Clinical genetics · 2026Article
- Single-cell proteomic landscape of the developing human brain.Nature biotechnology · 2026Article
- Single-cell multiomic analysis of mesenchymal cells reveals molecular signatures and regulators of lung allograft fibrosis.JCI insight · 2026Article
- Decoding common and rare noncoding variant effects across cellular and developmental contexts.Nature genetics · 2026Article
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- Prenatal diagnosis of 9p distal deletion associated with subependymal cysts: A case report and literature review.Medicine · 2026Review
- Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery.NPJ genomic medicine · 2026Article
- Loss of NFIA Impairs Adult Hippocampal Neurogenesis.Hippocampus · 2025Article
- scCompass: An Integrated Multi-Species scRNA-seq Database for AI-Ready.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- The patient-specific mouse model with Foxg1 frameshift mutation provides insights into the pathophysiology of FOXG1 syndrome.Nature communications · 2025Article
- Mapping the regulatory effects of common and rare non-coding variants across cellular and developmental contexts in the brain and heart.bioRxiv : the preprint server for biology · 2025Article
- Posttranscriptional Control of Neural Progenitors Temporal Dynamics During Neocortical Development by Syncrip.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Analysis of downstream targets of PAX6 and LHX2, fundamental regulators of the developing mammalian neocortex.Journal of biosciences · 2025Article
- Clinical features and genetic analysis of a family with t(5;9) (p15;p24) balanced translocation leading to Cri-du-chat syndrome in offspring.Frontiers in genetics · 2025Article
- Roles of the NFI/CTF gene family in transcription and development: update 2025.Academia biology · 2025Article
- PIN1 is a novel interaction partner and a negative upstream regulator of the transcription factor NFIB.FEBS letters · 2024Article
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Corrections and comments
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Authors and funding
49 authors at 20 institutions in 9 countries.
Funding
Abstract
The nuclear factor I (NFI) family of transcription factors play an important role in normal development of multiple organs. Three NFI family members are highly expressed in the brain, and deletions or sequence variants in two of these, NFIA and NFIX, have been associated with intellectual disability (ID) and brain malformations. NFIB, however, has not previously been implicated in human disease. Here, we present a cohort of 18 individuals with mild ID and behavioral issues who are haploinsufficient for NFIB. Ten individuals harbored overlapping microdeletions of the chromosomal 9p23-p22.2 region, ranging in size from 225 kb to 4.3 Mb. Five additional subjects had point sequence variations creating a premature termination codon, and three subjects harbored single-nucleotide variations resulting in an inactive protein as determined using an in vitro reporter assay. All individuals presented with additional variable neurodevelopmental phenotypes, including muscular hypotonia, motor and speech delay, attention deficit disorder, autism spectrum disorder, and behavioral abnormalities. While structural brain anomalies, including dysgenesis of corpus callosum, were variable, individuals most frequently presented with macrocephaly. To determine whether macrocephaly could be a functional consequence of NFIB disruption, we analyzed a cortex-specific Nfib conditional knockout mouse model, which is postnatally viable. Utilizing magnetic resonance imaging and histology, we demonstrate that Nfib conditional knockout mice have enlargement of the cerebral cortex but preservation of overall brain structure and interhemispheric connectivity. Based on our findings, we propose that haploinsufficiency of NFIB causes ID with macrocephaly.
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Registered trials
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