ArticleOrphanet journal of rare diseases2013
Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2.
Article in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 33 citations in OpenAlex.
- Exo70 Protects Against Memory and Synaptic Impairments Following Mild Traumatic Brain Injury.Antioxidants (Basel, Switzerland) · 2025Article
- CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence.Human genetics · 2023Article
- A Novel pyroptosis-related signature for predicting prognosis and evaluating tumor immune microenvironment in ovarian cancer.Journal of ovarian research · 2023Article
- The exocyst complex in neurological disorders.Human genetics · 2023Review
- Exo70 intracellular redistribution after repeated mild traumatic brain injury.Biological research · 2021Article
- Knockout of Cyp26a1 and Cyp26b1 during postnatal life causes reduced lifespan, dermatitis, splenomegaly, and systemic inflammation in mice.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2020Article
- Genomic signatures of domestication in Old World camels.Communications biology · 2020Article
- Regulating Retinoic Acid Availability during Development and Regeneration: The Role of the CYP26 Enzymes.Journal of developmental biology · 2020Review
- Biochemical and physiological importance of the CYP26 retinoic acid hydroxylases.Pharmacology & therapeutics · 2019Review
- The retinoic acid hydroxylase Cyp26a1 has minor effects on postnatal vitamin A homeostasis, but is required for exogenousThe Journal of biological chemistry · 2019Article
- Genomic imbalances defining novel intellectual disability associated loci.Orphanet journal of rare diseases · 2019Article
- The exocyst is required for photoreceptor ciliogenesis and retinal development.The Journal of biological chemistry · 2017Article
- Genome-wide association studies identified multiple genetic loci for body size at four growth stages in Chinese Holstein cattle.PloS one · 2017Article
- Accelerated Skeletal Maturation in Disorders of Retinoic Acid Metabolism: A Case Report and Focused Review of the Literature.Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme · 2016Review
- A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.European journal of human genetics : EJHG · 2016Article
- Regulation of dendrite growth and maintenance by exocytosis.Journal of cell science · 2015Article
- Functional consequences of copy number variants in miscarriage.Molecular cytogenetics · 2015Article
- Role of Retinoic Acid-Metabolizing Cytochrome P450s, CYP26, in Inflammation and Cancer.Advances in pharmacology (San Diego, Calif.) · 2015Review
- Globularity and language-readiness: generating new predictions by expanding the set of genes of interest.Frontiers in psychology · 2014Article
- FOXP2, retinoic acid, and language: a promising direction.Frontiers in cellular neuroscience · 2014Article
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14 authors at 6 institutions in 4 countries.
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Abstract
backgroundRare, recurrent genomic imbalances facilitate the association of genotype with abnormalities at the "whole body" level. However, at the cellular level, the functional consequences of recurrent genomic abnormalities and how they can be linked to the phenotype are much less investigated. METHOD AND
resultsWe report an example of a functional analysis of two genes from a new, overlapping microdeletion of 2p13.2 region (from 72,140,702-72,924,626). The subjects shared intellectual disability (ID), language delay, hyperactivity, facial asymmetry, ear malformations, and vertebral and/or craniofacial abnormalities. The overlapping region included two genes, EXOC6B and CYP26B1, which are involved in exocytosis/Notch signaling and retinoic acid (RA) metabolism, respectively, and are of critical importance for early morphogenesis, symmetry as well as craniofacial, skeleton and brain development. The abnormal function of EXOC6B was documented in patient lymphoblasts by its reduced expression and with perturbed expression of Notch signaling pathway genes HES1 and RBPJ, previously noted to be the consequence of EXOC6B dysfunction in animal and cell line models. Similarly, the function of CYP26B1 was affected by the deletion since the retinoic acid induced expression of this gene in patient lymphoblasts was significantly lower compared to controls (8% of controls).
conclusionHaploinsufficiency of CYP26B1 and EXOC6B genes involved in retinoic acid and exocyst/Notch signaling pathways, respectively, has not been reported previously in humans. The developmental anomalies and phenotypic features of our subjects are in keeping with the dysfunction of these genes, considering their known role. Documenting their dysfunction at the cellular level in patient cells enhanced our understanding of biological processes which contribute to the clinical phenotype.
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