title: Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, Greenberg Center for Skeletal Dysplasias, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address: jhoover2@jhmi.edu.
authors.forename: Julie
authors.initials: J
authors.lastname: Hoover-Fong
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
authors.forename: Nara
authors.initials: N
authors.lastname: Sobreira
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
authors.forename: Julie
authors.initials: J
authors.lastname: Jurgens
authors.affiliation: Department of Pediatrics, University of Wisconsin-Madison, Madison, WI 53705, USA.
authors.forename: Peggy
authors.initials: P
authors.lastname: Modaff
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, Greenberg Center for Skeletal Dysplasias, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
authors.forename: Carrie
authors.initials: C
authors.lastname: Blout
authors.affiliation: Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
authors.forename: Ann
authors.initials: A
authors.lastname: Moser
authors.affiliation: Department of Radiology, Ajou University Hospital, Suwon, Kyunggi 443-721, Korea.
authors.forename: Ok-Hwa
authors.initials: OH
authors.lastname: Kim
authors.affiliation: Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul 110-744, Korea.
authors.forename: Tae-Joon
authors.initials: TJ
authors.lastname: Cho
authors.affiliation: Department of Pediatrics, Hanyang University Guri Hospital, Hanyang University College of Medicine, Guri, Gyeonggi-Do 471-701, Korea.
authors.forename: Sung Yoon
authors.initials: SY
authors.lastname: Cho
authors.affiliation: Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea.
authors.forename: Sang Jin
authors.initials: SJ
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea.
authors.forename: Dong-Kyu
authors.initials: DK
authors.lastname: Jin
authors.affiliation: Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Aichi 466-8550, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kitoh
authors.affiliation: Samsung Genome Institute, Samsung Medical Center, Seoul 135-710, Korea; Department of Molecular Cell Biology, Sungkyunkwan University School of Medicine, Suwon 440-746, Korea.
authors.forename: Woong-Yang
authors.initials: WY
authors.lastname: Park
authors.affiliation: Center for Inherited Disease Research, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21224, USA.
authors.forename: Hua
authors.initials: H
authors.lastname: Ling
authors.affiliation: Center for Inherited Disease Research, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21224, USA.
authors.forename: Kurt N
authors.initials: KN
authors.lastname: Hetrick
authors.affiliation: Center for Inherited Disease Research, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21224, USA.
authors.forename: Kimberly F
authors.initials: KF
authors.lastname: Doheny
authors.affiliation: Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
authors.forename: David
authors.initials: D
authors.lastname: Valle
authors.affiliation: Department of Pediatrics, University of Wisconsin-Madison, Madison, WI 53705, USA.
authors.forename: Richard M
authors.initials: RM
authors.lastname: Pauli
mesh_terms: D000483:Alleles; D002675:Child, Preschool; D019916:Choline-Phosphate Cytidylyltransferase / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D010713:Phosphatidylcholines / Q000378:metabolism*; D012174:Retinitis Pigmentosa / Q000235:genetics*
chemical_list: D010713:Phosphatidylcholines; D019916:Choline-Phosphate Cytidylyltransferase; C517213:PCYT1A protein, human