Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy

Julie Hoover-Fong; Nara Sobreira; Julie Jurgens; Peggy Modaff; Carrie Blout; Ann Moser; Ok Hwa Kim; Tae Joon Cho; Sung Yoon Cho; Sang Jin Kim; Dong Kyu Jin; Hiroshi Kitoh; Woong Yang Park; Hua Ling; Kurt N. Hetrick; Kimberly F. Doheny; David Valle; Richard M. Pauli

doi:10.1016/j.ajhg.2013.11.018

Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy

Julie Hoover-Fong, Nara Sobreira, Julie Jurgens, Peggy Modaff, Carrie Blout, Ann Moser, Ok Hwa Kim, Tae Joon Cho, Sung Yoon Cho, Sang Jin Kim, Dong Kyu Jin, Hiroshi Kitoh, Woong Yang Park, Hua Ling, Kurt N. Hetrick, Kimberly F. Doheny, David Valle, Richard M. Pauli

School of Medicine

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

33 Scopus citations

Original language	English (US)
Pages (from-to)	105-112
Number of pages	8
Journal	American journal of human genetics
Volume	94
Issue number	1
DOIs	https://doi.org/10.1016/j.ajhg.2013.11.018
State	Published - Jan 2 2014

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Hoover-Fong, J., Sobreira, N., Jurgens, J., Modaff, P., Blout, C., Moser, A., Kim, O. H., Cho, T. J., Cho, S. Y., Kim, S. J., Jin, D. K., Kitoh, H., Park, W. Y., Ling, H., Hetrick, K. N., Doheny, K. F., Valle, D., & Pauli, R. M. (2014). Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy. American journal of human genetics, 94(1), 105-112. https://doi.org/10.1016/j.ajhg.2013.11.018

Hoover-Fong, J , Sobreira, N, Jurgens, J, Modaff, P, Blout, C, Moser, A, Kim, OH, Cho, TJ, Cho, SY, Kim, SJ, Jin, DK, Kitoh, H, Park, WY, Ling, H, Hetrick, KN, Doheny, KF , Valle, D & Pauli, RM 2014, 'Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy', American journal of human genetics, vol. 94, no. 1, pp. 105-112. https://doi.org/10.1016/j.ajhg.2013.11.018

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title = "Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy",

author = "Julie Hoover-Fong and Nara Sobreira and Julie Jurgens and Peggy Modaff and Carrie Blout and Ann Moser and Kim, {Ok Hwa} and Cho, {Tae Joon} and Cho, {Sung Yoon} and Kim, {Sang Jin} and Jin, {Dong Kyu} and Hiroshi Kitoh and Park, {Woong Yang} and Hua Ling and Hetrick, {Kurt N.} and Doheny, {Kimberly F.} and David Valle and Pauli, {Richard M.}",

note = "Funding Information: We are grateful to the families for participating in this project. The Kathryn and Alan Greenberg Center for Skeletal Dysplasias and a grant from the National Human Genome Research Institute (1U54HG006493) provided support for this work. The authors acknowledge intellectual contributions from all members of the Baylor-Hopkins Center for Mendelian Genomics (BHCMG). We also thank Michael Bamshad for making the connection of BHCMG with W.-Y.P. and his colleagues in Korea and Japan, Gerald A. Fishman for providing fundus photographs of subject 3, and Larry Nogee and Dan Raben for helpful discussions regarding phospholipid and surfactant metabolism. ",

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T1 - Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy

AU - Hoover-Fong, Julie

AU - Sobreira, Nara

AU - Jurgens, Julie

AU - Modaff, Peggy

AU - Blout, Carrie

AU - Moser, Ann

AU - Kim, Ok Hwa

AU - Cho, Tae Joon

AU - Cho, Sung Yoon

AU - Kim, Sang Jin

AU - Jin, Dong Kyu

AU - Kitoh, Hiroshi

AU - Park, Woong Yang

AU - Ling, Hua

AU - Hetrick, Kurt N.

AU - Doheny, Kimberly F.

AU - Valle, David

AU - Pauli, Richard M.

N1 - Funding Information: We are grateful to the families for participating in this project. The Kathryn and Alan Greenberg Center for Skeletal Dysplasias and a grant from the National Human Genome Research Institute (1U54HG006493) provided support for this work. The authors acknowledge intellectual contributions from all members of the Baylor-Hopkins Center for Mendelian Genomics (BHCMG). We also thank Michael Bamshad for making the connection of BHCMG with W.-Y.P. and his colleagues in Korea and Japan, Gerald A. Fishman for providing fundus photographs of subject 3, and Larry Nogee and Dan Raben for helpful discussions regarding phospholipid and surfactant metabolism.

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Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy

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