First report of a molecular prenatal diagnosis in a Tunisian family with lysinuric protein intolerance

Abstract

Lysinuric protein intolerance (LPI, MIM# 222700)is an inherited aminoaciduria caused by defective transport ofcationic amino acids (CAAs; arginine, lysine, ornithine) at thebasolateral membrane of epithelial cells in the intestine andkidney. We report the first prenatal diagnosis by direct mutationalanalysis of LPI performed in a Tunisian family. Anamniotic fluid sample was carried out at 16 weeks of gestationin a 32-year-old Tunisian woman who consulted for prenataldiagnosis. The 1471 delTTCT mutation at homozygous statewas identified indicating that the fetus was affected by LPI.The identification of this specific mutation provides a tool,which can be easily applied in Tunisia for molecular diagnosis,genetic counseling, and prenatal diagnosis of LPI.