ReviewEuropean journal of human genetics : EJHG2016
Expansion of phenotype and genotypic data in CRB2-related syndrome.
Review in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed.
- Expanded CRB2-related disease phenotype: multisystem involvement and post-transplant complications in monozygotic twins.Pediatric nephrology (Berlin, Germany) · 2025Article
- Adherent junctions: Physiology, role in hydrocephalus and potential therapeutic targets.IBRO neuroscience reports · 2025Review
- Candidate Genetic Modifiers in Alport Syndrome: A Case Series.Life (Basel, Switzerland) · 2025Article
- Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.Nature communications · 2024Article
- Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina.Life science alliance · 2024Article
- Diverse functions and pathogenetic role of Crumbs in retinopathy.Cell communication and signaling : CCS · 2024Review
- The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.Fluids and barriers of the CNS · 2024Review
- Loss of symmetric cell division of apical neural progenitors drivesmedRxiv : the preprint server for health sciences · 2024Article
- Fetal and Placental Causes of Elevated Serum Alpha-Fetoprotein Levels in Pregnant Women.Journal of clinical medicine · 2024Review
- Loss of the crumbs cell polarity complex disrupts epigenetic transcriptional control and cell cycle progression in the developing retina.The Journal of pathology · 2023Article
- Loss of surface transport is a main cellular pathomechanism of CRB2 variants causing podocytopathies.Life science alliance · 2023Article
- Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.Acta neuropathologica communications · 2023Article
- Exome Sequencing Revealed a Novel Splice Site Variant in theMedicina (Kaunas, Lithuania) · 2022Article
- A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis.CEN case reports · 2022Article
- Article
- Zebrafish Crb1, Localizing Uniquely to the Cell Membranes around Cone Photoreceptor Axonemes, Alleviates Light Damage to Photoreceptors and Modulates Cones' Light Responsiveness.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2020Article
- Review
- CRB2 Loss in Rod Photoreceptors Is Associated with Progressive Loss of Retinal Contrast Sensitivity.International journal of molecular sciences · 2019Article
- Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus.Scientific reports · 2019Article
- A clinical and molecular characterisation of CRB1-associated maculopathy.European journal of human genetics : EJHG · 2018Article
Corrections and comments
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Authors and funding
20 authors.
Funding
Abstract
Sequence variants in CRB2 cause a syndrome with greatly elevated maternal serum alpha-fetoprotein and amniotic fluid alpha-fetoprotein levels, cerebral ventriculomegaly and renal findings similar to Finnish congenital nephrosis. All reported patients have been homozygotes or compound heterozygotes for sequence variants in the Crumbs, Drosophila, Homolog of, 2 (CRB2) genes. Variants affecting CRB2 function have also been identified in four families with steroid resistant nephrotic syndrome, but without any other known systemic findings. We ascertained five, previously unreported individuals with biallelic variants in CRB2 that were predicted to affect function. We compiled the clinical features of reported cases and reviewed available literature for cases with features suggestive of CRB2-related syndrome in order to better understand the phenotypic and genotypic manifestations. Phenotypic analyses showed that ventriculomegaly was a common clinical manifestation (9/11 confirmed cases), in contrast to the original reports, in which patients were ascertained due to renal disease. Two children had minor eye findings and one was diagnosed with a B-cell lymphoma. Further genetic analysis identified one family with two affected siblings who were both heterozygous for a variant in NPHS2 predicted to affect function and separate families with sequence variants in NPHS4 and BBS7 in addition to the CRB2 variants. Our report expands the clinical phenotype of CRB2-related syndrome and establishes ventriculomegaly and hydrocephalus as frequent manifestations. We found additional sequence variants in genes involved in kidney development and ciliopathies in patients with CRB2-related syndrome, suggesting that these variants may modify the phenotype.
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