ArticleAnnals of neurology2018
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.
Article in Annals of neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 29 citations in OpenAlex.
- Fetal mri of obstructive hydrocephalus: a review proposing a surgical etiology-based approach.Neuroradiology · 2026Review
- Epilepsy Associated Gene,Genes · 2025Article
- Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.Nature communications · 2024Article
- Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome withMolecular syndromology · 2024Article
- Loss of symmetric cell division of apical neural progenitors drivesmedRxiv : the preprint server for health sciences · 2024Article
- PCDH12 loss results in premature neuronal differentiation and impeded migration in a cortical organoid model.Cell reports · 2023Article
- Review
- The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2022Review
- Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- L1CAM variants cause two distinct imaging phenotypes on fetal MRI.Annals of clinical and translational neurology · 2021Article
- Diagnostic Approach to Cerebellar Hypoplasia.Cerebellum (London, England) · 2021Review
- Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder.The Journal of investigative dermatology · 2021Review
- Protocadherins at the Crossroad of Signaling Pathways.Frontiers in molecular neuroscience · 2020Review
- Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.Brain : a journal of neurology · 2019Article
- Anti-Myelin Proteolipid Protein Peptide Monoclonal Antibodies Recognize Cell Surface Proteins on Developing Neurons and Inhibit Their Differentiation.Journal of neuropathology and experimental neurology · 2019Article
- How many cadherins do human endothelial cells express?Cellular and molecular life sciences : CMLS · 2019Review
Corrections and comments
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Authors and funding
35 authors at 9 institutions in 4 countries.
Funding
Abstract
objectiveTo identify causes of the autosomal-recessive malformation, diencephalic-mesencephalic junction dysplasia (DMJD) syndrome.
methodsEight families with DMJD were studied by whole-exome or targeted sequencing, with detailed clinical and radiological characterization. Patient-derived induced pluripotent stem cells were derived into neural precursor and endothelial cells to study gene expression.
resultsAll patients showed biallelic mutations in the nonclustered protocadherin-12 (PCDH12) gene. The characteristic clinical presentation included progressive microcephaly, craniofacial dysmorphism, psychomotor disability, epilepsy, and axial hypotonia with variable appendicular spasticity. Brain imaging showed brainstem malformations and with frequent thinned corpus callosum with punctate brain calcifications, reflecting expression of PCDH12 in neural and endothelial cells. These cells showed lack of PCDH12 expression and impaired neurite outgrowth.
interpretationDMJD patients have biallelic mutations in PCDH12 and lack of protein expression. These patients present with characteristic microcephaly and abnormalities of white matter tracts. Such pathogenic variants predict a poor outcome as a result of brainstem malformation and evidence of white matter tract defects, and should be added to the phenotypic spectrum associated with PCDH12-related conditions. Ann Neurol 2018;84:646-655.
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