ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed.
- DRP1 mutations associated with EMPF1 encephalopathy perturb the transcriptional profile and maturation of cortical neurons.Journal of neurodevelopmental disorders · 2026Article
- Protocadherin γC4 regulates neuronal survival and dendritic self-avoidance.Communications biology · 2026Article
- Protocadherin γC4 Promotes Neuronal Survival in the Mouse Retina Through Its Variable Cytoplasmic Domain.Molecular neurobiology · 2025Article
- A New Targeted Transgenic Mouse Line for the Study of Protocadherin γC4.Genesis (New York, N.Y. : 2000) · 2025Article
- Identification of Prognostic and Diagnostic Biomarkers for Glioma Utilizing Immune System Gene Profiling.Medical journal of the Islamic Republic of Iran · 2025Article
- The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy.Molecular neurobiology · 2024Article
- Synaptic gene expression changes in frontotemporal dementia due to themedRxiv : the preprint server for health sciences · 2024Article
- Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.NPJ genomic medicine · 2024Article
- The clustered gamma protocadherin PcdhγC4 isoform regulates cortical interneuron programmed cell death in the mouse cortex.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- A Unique Role for Protocadherin γC3 in Promoting Dendrite Arborization through an Axin1-Dependent Mechanism.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2023Article
- Identification of two novel autism genes,Frontiers in psychiatry · 2023Article
- Protocadherin Gamma C3 (PCDHGC3) Is Strongly Expressed in Glioblastoma and Its High Expression Is Associated with Longer Progression-Free Survival of Patients.International journal of molecular sciences · 2022Article
- How clustered protocadherin binding specificity is tuned for neuronal self-/nonself-recognition.eLife · 2022Article
- Genetic Markers of Spina Bifida: Enrichment of Pathogenic Variants and Variants of Uncertain Significance.Journal of Indian Association of Pediatric SurgeonsArticle
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Abstract
purposeWe aimed to define a novel autosomal recessive neurodevelopmental disorder, characterize its clinical features, and identify the underlying genetic cause for this condition.
methodsWe performed a detailed clinical characterization of 19 individuals from nine unrelated, consanguineous families with a neurodevelopmental disorder. We used genome/exome sequencing approaches, linkage and cosegregation analyses to identify disease-causing variants, and we performed three-dimensional molecular in silico analysis to predict causality of variants where applicable.
resultsIn all affected individuals who presented with a neurodevelopmental syndrome with progressive microcephaly, seizures, and intellectual disability we identified biallelic disease-causing variants in Protocadherin-gamma-C4 (PCDHGC4). Five variants were predicted to induce premature protein truncation leading to a loss of PCDHGC4 function. The three detected missense variants were located in extracellular cadherin (EC) domains EC5 and EC6 of PCDHGC4, and in silico analysis of the affected residues showed that two of these substitutions were predicted to influence the Ca
conclusionWe show that biallelic variants in PCDHGC4 are causing a novel autosomal recessive neurodevelopmental disorder and link PCDHGC4 as a member of the clustered PCDH family to a Mendelian disorder in humans.
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