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

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 ident ified after observation of pseudohypertriglyceridemia. DNA sequencing of th is 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 a s 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 ins ertion. Hum Mutat 15:316-323, 2000. (C) 2000 Wiley-Liss. Inc.