ArticleEuropean journal of human genetics : EJHG2019
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia.
Article in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 28 citations in OpenAlex.
- Cytokinetic abscission failures in a polarized epithelium affect apical membrane size and cilia.Molecular biology of the cell · 2026Article
- Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography.Developmental medicine and child neurology · 2025Review
- Identification of immune escape-related prognostic genes and immune infiltration analysis in hepatocellular carcinoma based on bioinformatics.Biochemistry and biophysics reports · 2025Article
- Biallelic missense CEP55 variants cause prenatal MARCH syndrome.Journal of human genetics · 2025Article
- The genetic etiologies of bilateral renal agenesis.Prenatal diagnosis · 2024Review
- Article
- Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.PLoS genetics · 2022Article
- Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).NPJ genomic medicine · 2022Article
- Review
- Cytokinetic Abscission Regulation in Neural Stem Cells and Tissue Development.Current stem cell reports · 2021Article
- Cep55 regulation of PI3K/Akt signaling is required for neocortical development and ciliogenesis.PLoS genetics · 2021Article
- Loss of Coiled-Coil Protein Cep55 Impairs Neural Stem Cell Abscission and Results in p53-Dependent Apoptosis in Developing Cortex.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2021Article
- CEP55 promotes cilia disassembly through stabilizing Aurora A kinase.The Journal of cell biology · 2021Article
- Cep55 overexpression promotes genomic instability and tumorigenesis in mice.Communications biology · 2020Article
- Article
- [CEP55 may be a potential therapeutic target for non-obstructive azoospermia with maturation arrest].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2019Article
- Delineating the expanding phenotype associated with SCAPER gene mutation.American journal of medical genetics. Part A · 2019Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
Abstract
The centrosomal protein 55 kDa (CEP55 (OMIM 610000)) plays a fundamental role in cell cycle regulation and cytokinesis. However, the precise role of CEP55 in human embryonic growth and development is yet to be fully defined. Here we identified a novel homozygous founder frameshift variant in CEP55, present at low frequency in the Amish community, in two siblings presenting with a lethal foetal disorder. The features of the condition are reminiscent of a Meckel-like syndrome comprising of Potter sequence, hydranencephaly, and cystic dysplastic kidneys. These findings, considered alongside two recent studies of single families reporting loss of function candidate variants in CEP55, confirm disruption of CEP55 function as a cause of this clinical spectrum and enable us to delineate the cardinal clinical features of this disorder, providing important new insights into early human development.
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Registered trials
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