Mutations in SOX2 cause anophthalmia

Judy Fantes; Nicola K Ragge; Sally-Ann Lynch; Niolette I McGill; J Richard O Collin; Patricia N Howard-Peebles; Caroline Hayward; Anthony J Vivian; Kathy Williamson; Veronica van Heyningen; David R FitzPatrick

doi:10.1038/ng1120

Mutations in SOX2 cause anophthalmia

Judy Fantes, Nicola K Ragge, Sally-Ann Lynch, Niolette I McGill, J Richard O Collin, Patricia N Howard-Peebles, Caroline Hayward, Anthony J Vivian, Kathy Williamson, Veronica van Heyningen, David R FitzPatrick

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

Abstract / Description of output

A submicroscopic deletion containing SOX2 was identified at the 3q breakpoint in a child with t(3;11)(q26.3;p11.2) associated with bilateral anophthalmia. Subsequent SOX2 mutation analysis identified de novo truncating mutations of SOX2 in 4 of 35 (11%) individuals with anophthalmia. Both eyes were affected in all cases with an identified mutation.

Original language	English
Pages (from-to)	461-3
Number of pages	3
Journal	Nature Genetics
Volume	33
Issue number	4
DOIs	https://doi.org/10.1038/ng1120
Publication status	Published - 2003

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title = "Mutations in SOX2 cause anophthalmia",

abstract = "A submicroscopic deletion containing SOX2 was identified at the 3q breakpoint in a child with t(3;11)(q26.3;p11.2) associated with bilateral anophthalmia. Subsequent SOX2 mutation analysis identified de novo truncating mutations of SOX2 in 4 of 35 (11%) individuals with anophthalmia. Both eyes were affected in all cases with an identified mutation.",

author = "Judy Fantes and Ragge, {Nicola K} and Sally-Ann Lynch and McGill, {Niolette I} and Collin, {J Richard O} and Howard-Peebles, {Patricia N} and Caroline Hayward and Vivian, {Anthony J} and Kathy Williamson and {van Heyningen}, Veronica and FitzPatrick, {David R}",

year = "2003",

doi = "10.1038/ng1120",

language = "English",

volume = "33",

pages = "461--3",

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T1 - Mutations in SOX2 cause anophthalmia

AU - Fantes, Judy

AU - Ragge, Nicola K

AU - Lynch, Sally-Ann

AU - McGill, Niolette I

AU - Collin, J Richard O

AU - Howard-Peebles, Patricia N

AU - Hayward, Caroline

AU - Vivian, Anthony J

AU - Williamson, Kathy

AU - van Heyningen, Veronica

AU - FitzPatrick, David R

PY - 2003

Y1 - 2003

N2 - A submicroscopic deletion containing SOX2 was identified at the 3q breakpoint in a child with t(3;11)(q26.3;p11.2) associated with bilateral anophthalmia. Subsequent SOX2 mutation analysis identified de novo truncating mutations of SOX2 in 4 of 35 (11%) individuals with anophthalmia. Both eyes were affected in all cases with an identified mutation.

AB - A submicroscopic deletion containing SOX2 was identified at the 3q breakpoint in a child with t(3;11)(q26.3;p11.2) associated with bilateral anophthalmia. Subsequent SOX2 mutation analysis identified de novo truncating mutations of SOX2 in 4 of 35 (11%) individuals with anophthalmia. Both eyes were affected in all cases with an identified mutation.

U2 - 10.1038/ng1120

DO - 10.1038/ng1120

M3 - Article

C2 - 12612584

SN - 1061-4036

VL - 33

SP - 461

EP - 463

JO - Nature Genetics

JF - Nature Genetics

IS - 4

ER -

Mutations in SOX2 cause anophthalmia

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