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AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency

2000; Wiley; Volume: 15; Issue: 4 Linguagem: Inglês

10.1002/(sici)1098-1004(200004)15

1098-1004

Y.-H. Zhang, Katrina M. Dipple, Éric Vilain, B Huang, G. Finlayson, Bradford L. Therrell, Kim C. Worley, Prescott L. Deininger, Edward R.B. McCabe,

Protein Kinase Regulation and GTPase Signaling

Human MutationVolume 15, Issue 4 p. 316-323 Research Article AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency Y.-H. Zhang, Y.-H. Zhang Department of Pediatrics, Division of Genetics, Mattel Children's Hospital at UCLA, Los Angeles, CaliforniaSearch for more papers by this authorK.M. Dipple, K.M. Dipple Department of Pediatrics, Division of Genetics, Mattel Children's Hospital at UCLA, Los Angeles, CaliforniaSearch for more papers by this authorE. Vilain, E. Vilain Department of Pediatrics, Division of Genetics, Mattel Children's Hospital at UCLA, Los Angeles, California Department of Human Genetics, UCLA School of Medicine, Los Angeles, California Mental Retardation Research Center, UCLA, Los Angeles, CaliforniaSearch for more papers by this authorB.-L. Huang, B.-L. Huang Department of Pediatrics, Division of Genetics, Mattel Children's Hospital at UCLA, Los Angeles, CaliforniaSearch for more papers by this authorG. Finlayson, G. Finlayson Nephrology Associates of North Central Florida, Gainesville, FloridaSearch for more papers by this authorB.L. Therrell, B.L. Therrell Texas Department of Health, Austin, TexasSearch for more papers by this authorK. Worley, K. Worley Department of Molecular and Human Genetics, Human Genome Sequencing Center, Baylor College of Medicine, Houston, TexasSearch for more papers by this authorP. Deininger, P. Deininger Basic Sciences Programs, Tulane Cancer Center, Tulane University, New Orleans, LouisianaSearch for more papers by this authorE.R.B. McCabe, Corresponding Author E.R.B. McCabe emccabe@mednet.ucla.edu Department of Pediatrics, Division of Genetics, Mattel Children's Hospital at UCLA, Los Angeles, California Mental Retardation Research Center, UCLA, Los Angeles, California Brain Research Institute, UCLA, Los Angeles, California Molecular Biology Institute, UCLA, Los Angeles, CaliforniaProfessor and Chair, Department of Pediatrics, Mattel Children's Hospital at UCLA, 10833 Le Conte Avenue, Los Angeles, CA 90095-1782Search for more papers by this author Y.-H. Zhang, Y.-H. Zhang Department of Pediatrics, Division of Genetics, Mattel Children's Hospital at UCLA, Los Angeles, CaliforniaSearch for more papers by this authorK.M. Dipple, K.M. Dipple Department of Pediatrics, Division of Genetics, Mattel Children's Hospital at UCLA, Los Angeles, CaliforniaSearch for more papers by this authorE. Vilain, E. Vilain Department of Pediatrics, Division of Genetics, Mattel Children's Hospital at UCLA, Los Angeles, California Department of Human Genetics, UCLA School of Medicine, Los Angeles, California Mental Retardation Research Center, UCLA, Los Angeles, CaliforniaSearch for more papers by this authorB.-L. Huang, B.-L. Huang Department of Pediatrics, Division of Genetics, Mattel Children's Hospital at UCLA, Los Angeles, CaliforniaSearch for more papers by this authorG. Finlayson, G. Finlayson Nephrology Associates of North Central Florida, Gainesville, FloridaSearch for more papers by this authorB.L. Therrell, B.L. Therrell Texas Department of Health, Austin, TexasSearch for more papers by this authorK. Worley, K. Worley Department of Molecular and Human Genetics, Human Genome Sequencing Center, Baylor College of Medicine, Houston, TexasSearch for more papers by this authorP. Deininger, P. Deininger Basic Sciences Programs, Tulane Cancer Center, Tulane University, New Orleans, LouisianaSearch for more papers by this authorE.R.B. McCabe, Corresponding Author E.R.B. McCabe emccabe@mednet.ucla.edu Department of Pediatrics, Division of Genetics, Mattel Children's Hospital at UCLA, Los Angeles, California Mental Retardation Research Center, UCLA, Los Angeles, California Brain Research Institute, UCLA, Los Angeles, California Molecular Biology Institute, UCLA, Los Angeles, CaliforniaProfessor and Chair, Department of Pediatrics, Mattel Children's Hospital at UCLA, 10833 Le Conte Avenue, Los Angeles, CA 90095-1782Search for more papers by this author First published: 22 March 2000 https://doi.org/10.1002/(SICI)1098-1004(200004)15:4 3.0.CO;2-9Citations: 32AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Abstract Glycerol kinase deficiency has three distinct forms: an isolated form which may be benign or symptomatic, and a complex form which is symptomatic and part of an Xp21 contiguous gene syndrome. Here we report the case of a male with benign isolated glycerol kinase deficiency who was incidentally identified after observation of pseudohypertriglyceridemia. DNA sequencing of this subject's glycerol kinase gene showed the insertion of an AluY sequence in intron 4 of the glycerol kinase gene. Although Alu insertions have been implicated in other diseases, and a closely related AluY element is found as an insert in the C1 inhibitor gene in patients with hereditary angioedema, this is the first case of glycerol kinase deficiency caused by an Alu insertion. Hum Mutat 15:316–323, 2000. © 2000 Wiley-Liss, Inc. Citing Literature Volume15, Issue4April 2000Pages 316-323 RelatedInformation