CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
Three distinct clinical manifestations of carnitine palmitoyltransferase II (CPT II) deficiency have been defined including a mild adult onset myopathy, a severe infantile disorder and a lethal neonatal form. In this study we have examined the genomic DNA of five patients, 3 with the lethal neonatal form and 2 with the severe infantile form of the disease and identified two disease-causing mutations in the CPT2 gene for each patient, three of which are novel. In addition, based on currently available structural, biochemical and clinical data, we have classified all 64 known disease-causing mutations into groups with different predicted phenotypes depending on their CPT2 allelic counterparts.
Department of Pediatrics, School of Medicine & Biomedical Sciences, State University of New York at Buffalo, SUNY at Buffalo, 100 High Street, Buffalo, NY 14203, USA.
Paul J
PJ
Isackson
Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine and Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Michael J
MJ
Bennett
Department of Pediatrics, The George Washington University Medical Center & Children's National Medical Center, Washington, DC, USA.
Uta
U
Lichter-Konecki
Department of Pediatrics, University of California San Diego, La Jolla, CA, USA.
Mary
M
Willis
Department of Pediatrics, University of California San Diego, La Jolla, CA, USA.
William L
WL
Nyhan
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
V Reid
VR
Sutton
Division of Neurology, The Research Institute, The Hospital for Sick Children & The University of Toronto, Toronto, Ont., Canada.
Ingrid
I
Tein
Department of Pediatrics, School of Medicine & Biomedical Sciences, State University of New York at Buffalo, SUNY at Buffalo, 100 High Street, Buffalo, NY 14203, USA.
Georgirene D
GD
Vladutiu
D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D002334:Carnitine O-Palmitoyltransferase / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*; D009135:Muscular Diseases / Q000201:enzymology / Q000235:genetics; D009154:Mutation; D010641:Phenotype
D002334:Carnitine O-Palmitoyltransferase