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

TitleAluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency.
Publication TypeJournal Article
Year of Publication2000
AuthorsZhang, Y, Dipple, KM, Vilain, E, Huang, BL, Finlayson, G, Therrell, BL, Worley, KC, Deininger, P, McCabe, ER
JournalHum Mutat
Volume15
Issue4
Pagination316-23
Date Published2000
ISSN1059-7794
KeywordsAdult, African Continental Ancestry Group, Alu Elements, Base Sequence, Consensus Sequence, Exons, Gene Amplification, Glycerol Kinase, Humans, Introns, Male, Molecular Sequence Data
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.

DOI10.1002/(SICI)1098-1004(200004)15:4<316::AID-HUMU3>3.0.CO;2-9
Alternate JournalHum. Mutat.
PubMed ID10737976
Grant ListP30 HD34610 / HD / NICHD NIH HHS / United States
R01 HD22563 / HD / NICHD NIH HHS / United States