Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

Koki Yamada; Caroline Andrews; Wai Man Chan; Craig A. McKeown; Adriano Magli; Teresa De Berardinis; Anat Loewenstein; Moshe Lazar; Michael O'Keefe; Robert Letson; Arnold London; Mark Ruttum; Naomichi Matsumoto; Nakamichi Saito; Lisa Morris; Monte Del Monte; Roger H. Johnson; Eiichiro Uyama; Willem A. Houtman; Berendina De Vries; Thomas J. Carlow; Blaine L. Hart; Nicolas Krawiecki; John Shoffner; Marlene C. Vogel; James Katowitz; Scott M. Goldstein; Alex V. Levin; Emin C. Sener; Banu T. Ozturk; A. Nurten Akarsu; Michael C. Brodsky; Frank Hanisch; Robert P. Cruse; Alina A. Zubcov; Richard M. Robb; Peter Roggenkäemper; Irene Gottlob; Lionel Kowal; Ravi Battu; Elias I. Traboulsi; Piergiorgio Franceschini; Anna Newlin; Joseph L. Demer; Elizabeth C. Engle

doi:10.1038/ng1261

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

Koki Yamada, Caroline Andrews, Wai Man Chan, Craig A. McKeown, Adriano Magli, Teresa De Berardinis, Anat Loewenstein, Moshe Lazar, Michael O'Keefe, Robert Letson, Arnold London, Mark Ruttum, Naomichi Matsumoto, Nakamichi Saito, Lisa Morris, Monte Del Monte, Roger H. Johnson, Eiichiro Uyama, Willem A. Houtman, Berendina De VriesThomas J. Carlow, Blaine L. Hart, Nicolas Krawiecki, John Shoffner, Marlene C. Vogel, James Katowitz, Scott M. Goldstein, Alex V. Levin, Emin C. Sener, Banu T. Ozturk, A. Nurten Akarsu, Michael C. Brodsky, Frank Hanisch, Robert P. Cruse, Alina A. Zubcov, Richard M. Robb, Peter Roggenkäemper, Irene Gottlob, Lionel Kowal, Ravi Battu, Elias I. Traboulsi, Piergiorgio Franceschini, Anna Newlin, Joseph L. Demer, Elizabeth C. Engle^*

^*Corresponding author for this work

Ophthalmology

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

249 Scopus citations

Abstract

Congenital fibrosis of the extraocular muscles type 1 (CFFOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by KIF21A. We identified six different mutations in 44 of 45 probands. The primary mutational hotspots are in the stalk domain, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis.

Original language	English
Pages (from-to)	318-321
Number of pages	4
Journal	Nature Genetics
Volume	35
Issue number	4
DOIs	https://doi.org/10.1038/ng1261
State	Published - Dec 2003

Funding

Funders	Funder number
Children’s Hospital Mental Retardation Research Center
National Institutes of Health
National Eye Institute	R01EY008313

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10.1038/ng1261

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Yamada, K., Andrews, C., Chan, W. M., McKeown, C. A., Magli, A., De Berardinis, T., Loewenstein, A., Lazar, M., O'Keefe, M., Letson, R., London, A., Ruttum, M., Matsumoto, N., Saito, N., Morris, L., Del Monte, M., Johnson, R. H., Uyama, E., Houtman, W. A., ... Engle, E. C. (2003). Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nature Genetics, 35(4), 318-321. https://doi.org/10.1038/ng1261

@article{fae39dfae70d4b018fc5fb4e44e2b1a9,

title = "Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)",

abstract = "Congenital fibrosis of the extraocular muscles type 1 (CFFOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by KIF21A. We identified six different mutations in 44 of 45 probands. The primary mutational hotspots are in the stalk domain, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis.",

author = "Koki Yamada and Caroline Andrews and Chan, {Wai Man} and McKeown, {Craig A.} and Adriano Magli and {De Berardinis}, Teresa and Anat Loewenstein and Moshe Lazar and Michael O'Keefe and Robert Letson and Arnold London and Mark Ruttum and Naomichi Matsumoto and Nakamichi Saito and Lisa Morris and {Del Monte}, Monte and Johnson, {Roger H.} and Eiichiro Uyama and Houtman, {Willem A.} and {De Vries}, Berendina and Carlow, {Thomas J.} and Hart, {Blaine L.} and Nicolas Krawiecki and John Shoffner and Vogel, {Marlene C.} and James Katowitz and Goldstein, {Scott M.} and Levin, {Alex V.} and Sener, {Emin C.} and Ozturk, {Banu T.} and Akarsu, {A. Nurten} and Brodsky, {Michael C.} and Frank Hanisch and Cruse, {Robert P.} and Zubcov, {Alina A.} and Robb, {Richard M.} and Peter Roggenk{\"a}emper and Irene Gottlob and Lionel Kowal and Ravi Battu and Traboulsi, {Elias I.} and Piergiorgio Franceschini and Anna Newlin and Demer, {Joseph L.} and Engle, {Elizabeth C.}",

note = "Funding Information: We thank all the participants in this study; J.H. Calhoun, R. Baker, E. Ballard, G. Rogers and R. Fellows for pedigree referrals; J. Scharf and A. Beggs for critically reading this manuscript; K. Miura and R.R. Bennett for advice and suggestions; M.P. Rogines-Velo-Sardi and C. Miranda for discussion; and C. St Hilaire for technical assistance. This work was supported by grants from the US National Institutes of Health and by the Children{\textquoteright}s Hospital Mental Retardation Research Center.",

year = "2003",

month = dec,

doi = "10.1038/ng1261",

language = "אנגלית",

volume = "35",

pages = "318--321",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

number = "4",

}

Yamada, K, Andrews, C, Chan, WM, McKeown, CA, Magli, A, De Berardinis, T, Loewenstein, A, Lazar, M, O'Keefe, M, Letson, R, London, A, Ruttum, M, Matsumoto, N, Saito, N, Morris, L, Del Monte, M, Johnson, RH, Uyama, E, Houtman, WA, De Vries, B, Carlow, TJ, Hart, BL, Krawiecki, N, Shoffner, J, Vogel, MC, Katowitz, J, Goldstein, SM, Levin, AV, Sener, EC, Ozturk, BT, Akarsu, AN, Brodsky, MC, Hanisch, F, Cruse, RP, Zubcov, AA, Robb, RM, Roggenkäemper, P, Gottlob, I, Kowal, L, Battu, R, Traboulsi, EI, Franceschini, P, Newlin, A, Demer, JL & Engle, EC 2003, 'Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)', Nature Genetics, vol. 35, no. 4, pp. 318-321. https://doi.org/10.1038/ng1261

TY - JOUR

T1 - Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

AU - Yamada, Koki

AU - Andrews, Caroline

AU - Chan, Wai Man

AU - McKeown, Craig A.

AU - Magli, Adriano

AU - De Berardinis, Teresa

AU - Loewenstein, Anat

AU - Lazar, Moshe

AU - O'Keefe, Michael

AU - Letson, Robert

AU - London, Arnold

AU - Ruttum, Mark

AU - Matsumoto, Naomichi

AU - Saito, Nakamichi

AU - Morris, Lisa

AU - Del Monte, Monte

AU - Johnson, Roger H.

AU - Uyama, Eiichiro

AU - Houtman, Willem A.

AU - De Vries, Berendina

AU - Carlow, Thomas J.

AU - Hart, Blaine L.

AU - Krawiecki, Nicolas

AU - Shoffner, John

AU - Vogel, Marlene C.

AU - Katowitz, James

AU - Goldstein, Scott M.

AU - Levin, Alex V.

AU - Sener, Emin C.

AU - Ozturk, Banu T.

AU - Akarsu, A. Nurten

AU - Brodsky, Michael C.

AU - Hanisch, Frank

AU - Cruse, Robert P.

AU - Zubcov, Alina A.

AU - Robb, Richard M.

AU - Roggenkäemper, Peter

AU - Gottlob, Irene

AU - Kowal, Lionel

AU - Battu, Ravi

AU - Traboulsi, Elias I.

AU - Franceschini, Piergiorgio

AU - Newlin, Anna

AU - Demer, Joseph L.

AU - Engle, Elizabeth C.

N1 - Funding Information: We thank all the participants in this study; J.H. Calhoun, R. Baker, E. Ballard, G. Rogers and R. Fellows for pedigree referrals; J. Scharf and A. Beggs for critically reading this manuscript; K. Miura and R.R. Bennett for advice and suggestions; M.P. Rogines-Velo-Sardi and C. Miranda for discussion; and C. St Hilaire for technical assistance. This work was supported by grants from the US National Institutes of Health and by the Children’s Hospital Mental Retardation Research Center.

PY - 2003/12

Y1 - 2003/12

N2 - Congenital fibrosis of the extraocular muscles type 1 (CFFOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by KIF21A. We identified six different mutations in 44 of 45 probands. The primary mutational hotspots are in the stalk domain, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis.

AB - Congenital fibrosis of the extraocular muscles type 1 (CFFOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by KIF21A. We identified six different mutations in 44 of 45 probands. The primary mutational hotspots are in the stalk domain, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis.

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DO - 10.1038/ng1261

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AN - SCOPUS:0344826532

SN - 1061-4036

VL - 35

SP - 318

EP - 321

JO - Nature Genetics

JF - Nature Genetics

IS - 4

ER -

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

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