Mutations in CEP57 cause mosaic variegated aneuploidy syndrome
Författare
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.
Avdelning/ar
- Avdelningen för klinisk genetik
- BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation
Publiceringsår
2011
Språk
Engelska
Sidor
527-529
Publikation/Tidskrift/Serie
Nature Genetics
Volym
43
Issue
6
Dokumenttyp
Artikel i tidskrift
Förlag
Nature Publishing Group
Ämne
- Medical Genetics
Status
Published
ISBN/ISSN/Övrigt
- ISSN: 1546-1718