ReviewAmerican journal of medical genetics. Part A2021
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
Review in American journal of medical genetics. Part A, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed, 33 citations in OpenAlex.
- Cytoplasmic cyclin D1 modulates brain cortex development.Cellular and molecular life sciences : CMLS · 2026Article
- Identification of ephrin-A1-EphA2 signalling as a potential target for fracture prevention.Nature communications · 2026Article
- Molecular features of congenital cytomegalovirus infection in neonatal mouse brain at single-cell resolution.Acta neuropathologica communications · 2025Article
- New insights into genetic comorbidity mechanisms: type 2 diabetes and primary open-angle glaucoma.BMJ open ophthalmology · 2025Article
- Identifying core genes in keloid and investigating immune infiltration and pan-cancer associations using eQTL and machine learning.Bioinformatics advances · 2025Article
- Hyperoxia shows duration-dependent effects on the lengths of cell cycle phases in fetal cortical neural stem cells.Frontiers in cell and developmental biology · 2025Article
- A Necessary Role for Cyclin D2 Induction During Colon Cancer Progression Mediated by L1.Cells · 2024Article
- Article
- mRNA expression profiles in muscle-derived extracellular vesicles of Large White and wild boar piglets reveal their potential roles in immunity and muscle phenotype.Frontiers in veterinary science · 2024Article
- Small size, big problems: insights and difficulties in prenatal diagnosis of fetal microcephaly.Frontiers in neuroscience · 2024Review
- Sequenced-based GWAS for linear classification traits in Belgian Blue beef cattle reveals new coding variants in genes regulating body size in mammals.Genetics, selection, evolution : GSE · 2023Article
- Bidirectional Mendelian Randomization and Multiphenotype GWAS Show Causality and Shared Pathophysiology Between Depression and Type 2 Diabetes.Diabetes care · 2023Article
- Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly.BMC genomics · 2023Article
- SRSF10 regulates proliferation of neural progenitor cells and affects neurogenesis in developing mouse neocortex.iScience · 2023Article
- D-Type Cyclins in Development and Disease.Genes · 2023Review
- GPR41 Regulates the Proliferation of BRECs via the PIK3-AKT-mTOR Pathway.International journal of molecular sciences · 2023Article
- MicroRNA profiling reveals the role of miR-133b-3p in promoting apoptosis and inhibiting cell proliferation and testosterone synthesis in mouse TM3 cells.In vitro cellular & developmental biology. Animal · 2023Article
- Prenatal diagnosis of microcephaly as shown by plateauing of head circumference growth during the 3rd trimester in a fetus with a CCND2 inverse growth variant.Prenatal diagnosis · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 8 institutions in 3 countries.
Funding
Abstract
Cyclin D2 (CCND2) is a critical cell cycle regulator and key member of the cyclin D2-CDK4 (DC) complex. De novo variants of CCND2 clustering in the distal part of the protein have been identified as pathogenic causes of brain overgrowth (megalencephaly, MEG) and severe cortical malformations in children including the megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome. Megalencephaly-associated CCND2 variants are localized to the terminal exon and result in accumulation of degradation-resistant protein. We identified five individuals from three unrelated families with novel variants in the proximal region of CCND2 associated with microcephaly, mildly simplified cortical gyral pattern, symmetric short stature, and mild developmental delay. Identified variants include de novo frameshift variants and a dominantly inherited stop-gain variant segregating with the phenotype. This is the first reported association between proximal CCND2 variants and microcephaly, to our knowledge. This series expands the phenotypic spectrum of CCND2-related disorders and suggests that distinct classes of CCND2 variants are associated with reciprocal effects on human brain growth (microcephaly and megalencephaly due to possible loss or gain of protein function, respectively), adding to the growing paradigm of inverse phenotypes due to dysregulation of key brain growth genes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.