Nature Genetics 38, 752 - 754 (2006)
Published online: 18 June 2006; Corrected online: 17 July 2006 | doi:10.1038/ng1826
There is a Corrigendum (August 2006) associated with this Brief Communication.
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain ironNeil V Morgan1, 18, Shawn K Westaway2, 18, Jenny E V Morton3, Allison Gregory2, Paul Gissen1, Scott Sonek2, Hakan Cangul1, 4, Jason Coryell2, Natalie Canham3, Nardo Nardocci5, Giovanna Zorzi5, Shanaz Pasha1, Diana Rodriguez6, Isabelle Desguerre7, Amar Mubaidin8, Enrico Bertini9, Richard C Trembath10, Alessandro Simonati11, Carolyn Schanen12, Colin A Johnson1, Barbara Levinson13, C Geoffrey Woods14, Beth Wilmot2, Patricia Kramer2, 15, Jane Gitschier13, 16, Eamonn R Maher1, 3 & Susan J Hayflick2, 15, 171
Section of Medical & Molecular Genetics, University of Birmingham School of Medicine, Edgbaston, Birmingham B15 2TT, UK. 2
Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA 97239. 3
West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham, UK B15 2TG. 4
Department of Medical Genetics, Uludag University School of Medicine, Bursa 16036, Turkey. 5
Department of Child Neurology, Istituto Nazionale Neurologico "Carlo Besta", Milan 20133, Italy. 6
Department of Pediatric Neurology, Hôpital Armand Trousseau, Paris 75571, France. 7
Department of Pediatric Neurology, Hôpital Necker Enfants Malades, Paris 75270, France. 8
Neurology Department, King Hussein Medical Centre, Amman 11947, Jordan. 9
Unit of Molecular Medicine, Bambino Gesù Hospital, Rome 00165, Italy. 10
Division of Genetics and Molecular Medicine, Kings College London School of Medicine, Guys Hospital, London SE1 9RT, UK. 11
Department of Neurological and Visual Sciences, University of Verona School of Medicine, Verona 37129, Italy. 12
Nemours Research Programs, A.I. duPont Hospital for Children, Wilmington, Delaware 19899, USA. 13
Department of Medicine, University of California, San Francisco, California 94143, USA. 14
Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 1TN, UK. 15
Department of Neurology, Oregon Health & Science University, Portland, Oregon 97239, USA. 16
Howard Hughes Medical Institute, Oregon Health & Science University, Portland, Oregon 97239, USA. 17
Department of Pediatrics, Oregon Health & Science University, Portland, Oregon 97239, USA. 18
These individuals contributed equally to this work.
Correspondence should be addressed to Susan J Hayflick hayflick@ohsu.edu Neurodegenerative disorders with high brain iron include Parkinson disease, Alzheimer disease and several childhood genetic disorders categorized as neuroaxonal dystrophies. We mapped a locus for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A2, in NBIA, INAD and the related Karak syndrome. This discovery implicates phospholipases in the pathogenesis of neurodegenerative disorders with iron dyshomeostasis.
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