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dc.contributor.authorRawlins, Lettie
dc.contributor.authorFasham, James
dc.contributor.authorEllard, Sian
dc.date.accessioned2019-02-08T15:21:36Z
dc.date.available2019-02-08T15:21:36Z
dc.date.issued2019-01-08
dc.identifier.citationRawlins LE [et al]. An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. Eur J Hum Genet. 2019 Jan 8. doi: 10.1038/s41431-018-0306-0. [Epub ahead of print]en_US
dc.identifier.pmid30622327
dc.identifier.doi10.1038/s41431-018-0306-0
dc.identifier.urihttps://rde.dspace-express.com/handle/123456789/620953
dc.description.abstractThe 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.en_US
dc.language.isoenen_US
dc.publisherNatureen_US
dc.relation.urlhttp://dx.doi.org/10.1038/s41431-018-0306-0en_US
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen_US
dc.titleAn Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasiaen_US
dc.typeJournal Articleen_US
dc.identifier.journalEuropean Journal of Human Geneticsen_US
dc.type.versionIn press (epub ahead of print)en_US


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