Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

Katie Snape; Sandra Hanks; Elise Ruark; Patricio Barros-Núñez; Anna Elliott; Anne Murray; Andrew H. Lane; Nora Shannon; Patrick Callier; David Chitayat; Jill Clayton-Smith; David R. Fitzpatrick; David Gisselsson; Sebastien Jacquemont; Keiko Asakura-Hay; Mark A. Micale; John Tolmie; Peter D. Turnpenny; Michael Wright; Jenny Douglas; Nazneen Rahman

doi:10.1038/ng.822

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

Katie Snape
, Sandra Hanks
, Elise Ruark
, Patricio Barros-Núñez
, Anna Elliott
, Anne Murray
, Andrew H. Lane
, Nora Shannon
, Patrick Callier
, David Chitayat
, Jill Clayton-Smith
, David R. Fitzpatrick
, David Gisselsson
, Sebastien Jacquemont
, Keiko Asakura-Hay
, Mark A. Micale
, John Tolmie
, Peter D. Turnpenny
, Michael Wright
, Jenny Douglas

Nazneen Rahman

Pediatrics

The Institute of Cancer Research
Instituto Mexicano del Seguro Social
City Hospital
Université de Bourgogne
University of Toronto
Imperial College Healthcare NHS Trust
NHS Lothian
Lund University
University of Lausanne
University of Dundee
Oakland University
NHS Greater Glasgow and Clyde
Royal Devon & Exeter NHS Foundation Trust
Newcastle upon Tyne Hospitals NHS Foundation Trust

Research output: Contribution to journal › Article › peer-review

108 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	527-529
Number of pages	3
Journal	Nature Genetics
Volume	43
Issue number	6
DOIs	https://doi.org/10.1038/ng.822
State	Published - Jun 2011

Access to Document

10.1038/ng.822

Cite this

Snape, K., Hanks, S., Ruark, E., Barros-Núñez, P., Elliott, A., Murray, A., Lane, A. H., Shannon, N., Callier, P., Chitayat, D., Clayton-Smith, J., Fitzpatrick, D. R., Gisselsson, D., Jacquemont, S., Asakura-Hay, K., Micale, M. A., Tolmie, J., Turnpenny, P. D., Wright, M., ... Rahman, N. (2011). Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. Nature Genetics, 43(6), 527-529. https://doi.org/10.1038/ng.822

@article{8baf0a7c542440cc8a07954dcd5cb331,

title = "Mutations in CEP57 cause mosaic variegated aneuploidy syndrome",

abstract = "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 and Sandra Hanks and Elise Ruark and Patricio Barros-N{\'u}{\~n}ez and Anna Elliott and Anne Murray and Lane, \{Andrew H.\} and Nora Shannon and Patrick Callier and David Chitayat and Jill Clayton-Smith and Fitzpatrick, \{David R.\} and David Gisselsson and Sebastien Jacquemont and Keiko Asakura-Hay and Micale, \{Mark A.\} and John Tolmie and Turnpenny, \{Peter D.\} and Michael Wright and Jenny Douglas and Nazneen Rahman",

year = "2011",

month = jun,

doi = "10.1038/ng.822",

language = "English",

volume = "43",

pages = "527--529",

journal = "Nature Genetics",

issn = "1061-4036",

number = "6",

}

Snape, K, Hanks, S, Ruark, E, Barros-Núñez, P, Elliott, A, Murray, A, Lane, AH, Shannon, N, Callier, P, Chitayat, D, Clayton-Smith, J, Fitzpatrick, DR, Gisselsson, D, Jacquemont, S, Asakura-Hay, K, Micale, MA, Tolmie, J, Turnpenny, PD, Wright, M, Douglas, J & Rahman, N 2011, 'Mutations in CEP57 cause mosaic variegated aneuploidy syndrome', Nature Genetics, vol. 43, no. 6, pp. 527-529. https://doi.org/10.1038/ng.822

TY - JOUR

T1 - Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

AU - Snape, Katie

AU - Hanks, Sandra

AU - Ruark, Elise

AU - Barros-Núñez, Patricio

AU - Elliott, Anna

AU - Murray, Anne

AU - Lane, Andrew H.

AU - Shannon, Nora

AU - Callier, Patrick

AU - Chitayat, David

AU - Clayton-Smith, Jill

AU - Fitzpatrick, David R.

AU - Gisselsson, David

AU - Jacquemont, Sebastien

AU - Asakura-Hay, Keiko

AU - Micale, Mark A.

AU - Tolmie, John

AU - Turnpenny, Peter D.

AU - Wright, Michael

AU - Douglas, Jenny

AU - Rahman, Nazneen

PY - 2011/6

Y1 - 2011/6

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/79957612407

U2 - 10.1038/ng.822

DO - 10.1038/ng.822

M3 - Article

C2 - 21552266

AN - SCOPUS:79957612407

SN - 1061-4036

VL - 43

SP - 527

EP - 529

JO - Nature Genetics

JF - Nature Genetics

IS - 6

ER -

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

Abstract

Access to Document

Other files and links

Fingerprint

Cite this