Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

Summary, in English

Using exome sequencing and a variant prioritization strategy that focuses on loss-of-function variants, we identified biallelic, loss-of-function CEP57 mutations as a cause of constitutional mosaic aneuploidies. CEP57 is a centrosomal protein and is involved in nucleating and stabilizing microtubules. Our findings indicate that these and/or additional functions of CEP57 are crucial for maintaining correct chromosomal number during cell division.

• Author: Katie Snape; Sandra Hanks; Elise Ruark; Patricio Barros-Nunez; Anna Elliott; Anne Murray; Andrew H. Lane; Nora Shannon; Patrick Callier; David Chitayat; Jill Clayton-Smith; David R. FitzPatrick; David Gisselsson Nord; Sebastien Jacquemont; Keiko Asakura-Hay; Mark A. Micale; John Tolmie; Peter D. Turnpenny; Michael Wright; Jenny Douglas; Nazneen Rahman
• Department/s: Division of Clinical Genetics; BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation
• Publishing year: 2011
• Language: English
• Pages: 527-529
• Publication/Series: Nature Genetics
• Volume: 43
• Issue: 6
• Links: http://dx.doi.org/10.1038/ng.822
• Document type: Journal article
• Publisher: Nature Publishing Group
• Topic: Medical Genetics
• Status: Published
• ISBN/ISSN/Other: ISSN: 1546-1718