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

Y. H. Zhang, K. M. Dipple, E. Vilain, B. L. Huang, G. Finlayson, B. L. Therrell, K. Worley, P. Deininger, E. R.B. McCabe

Research output: Contribution to journalArticle

34 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)316-323
Number of pages8
JournalHuman mutation
Volume15
Issue number4
DOIs
StatePublished - 2000
Externally publishedYes

Keywords

  • AluY insertion
  • GK
  • Glycerol kinase
  • SINE
  • Short interspersed element insertion

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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