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

Hum Mutat. 2000;15(4):316-23. doi: 10.1002/(SICI)1098-1004(200004)15:4<316::AID-HUMU3>3.0.CO;2-9.

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.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • African Continental Ancestry Group / genetics
  • Alu Elements / genetics*
  • Base Sequence
  • Consensus Sequence
  • Exons
  • Gene Amplification
  • Glycerol Kinase / deficiency*
  • Glycerol Kinase / genetics*
  • Humans
  • Introns / genetics
  • Male
  • Molecular Sequence Data

Substances

  • Glycerol Kinase