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 DouglasNazneen Rahman

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

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)	527-9
Number of pages	3
Journal	Nature Genetics
Volume	43
Issue number	6
DOIs	https://doi.org/10.1038/ng.822
Publication status	Published - 2011

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10.1038/ng.822

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome
Published in final edited form as: Nat Genet. 2011 June ; 43(6): 527–529. doi:10.1038/ng.822.
Accepted author manuscript, 488 KB

http://www.nature.com/ng/journal/v43/n6/full/ng.822.html

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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), 527-9. https://doi.org/10.1038/ng.822

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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",

doi = "10.1038/ng.822",

language = "English",

volume = "43",

pages = "527--9",

journal = "Nature Genetics",

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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. 527-9. 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

Y1 - 2011

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

VL - 43

SP - 527

EP - 529

JO - Nature Genetics

JF - Nature Genetics

IS - 6

ER -

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

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