An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia.
Rawlins LE, Jones H, Wenger O, Aye M, Fasham J, Harlalka GV, Chioza BA, Miron A, Ellard S, Wakeling M, Crosby AH, Baple EL.
Rawlins LE, et al.
Eur J Hum Genet. 2019 Apr;27(4):657-662. doi: 10.1038/s41431-018-0306-0. Epub 2019 Jan 8.
Eur J Hum Genet. 2019.
PMID: 30622327
Free PMC article.
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 o …
Here we identified a novel homozygous founder frameshift variant in CEP55, present at low frequency in the Amish community, in two siblings …