dc.contributor.author | Rawlins, LE | |
dc.contributor.author | Jones, H | |
dc.contributor.author | Wenger, O | |
dc.contributor.author | Aye, M | |
dc.contributor.author | Fasham, J | |
dc.contributor.author | Harlalka, GV | |
dc.contributor.author | Chioza, BA | |
dc.contributor.author | Miron, A | |
dc.contributor.author | Ellard, S | |
dc.contributor.author | Wakeling, M | |
dc.contributor.author | Crosby, AH | |
dc.contributor.author | Baple, EL | |
dc.date.accessioned | 2019-02-27T08:56:00Z | |
dc.date.issued | 2019-01-08 | |
dc.description.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. | en_GB |
dc.description.sponsorship | Medical Research Council | en_GB |
dc.description.sponsorship | Newlife Foundation for disabled children | en_GB |
dc.identifier.citation | Published online 08 January 2019 | en_GB |
dc.identifier.doi | 10.1038/s41431-018-0306-0 | |
dc.identifier.grantnumber | G1001931 | en_GB |
dc.identifier.grantnumber | G1002279 | en_GB |
dc.identifier.uri | http://hdl.handle.net/10871/36081 | |
dc.language.iso | en | en_GB |
dc.publisher | Springer Nature | en_GB |
dc.rights.embargoreason | Under embargo until 8 June 2019 in compliance with publisher policy. | |
dc.rights | © 2019 European Society of Human Genetics | en_GB |
dc.subject | Consanguinity | en_GB |
dc.subject | hydrocephalus | en_GB |
dc.subject | paediatric kidney disease | en_GB |
dc.subject | paediatric neurological disorders | en_GB |
dc.title | An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia | en_GB |
dc.type | Article | en_GB |
dc.date.available | 2019-02-27T08:56:00Z | |
dc.identifier.issn | 1018-4813 | |
dc.description | This is the author accepted manuscript. The final version is available from Springer Nature via the DOI in this record. | en_GB |
dc.identifier.journal | European Journal of Human Genetics | en_GB |
dc.rights.uri | http://www.rioxx.net/licenses/all-rights-reserved | en_GB |
dcterms.dateAccepted | 2018-11-07 | |
rioxxterms.version | AM | en_GB |
rioxxterms.licenseref.startdate | 2019-01-08 | |
rioxxterms.type | Journal Article/Review | en_GB |
refterms.dateFCD | 2019-02-27T08:49:48Z | |
refterms.versionFCD | AM | |
refterms.panel | A | en_GB |