title: 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 of cationic amino acids (CAAs; arginine, lysine, ornithine) at the basolateral membrane of epithelial cells in the intestine and kidney. We report the first prenatal diagnosis by direct mutational analysis of LPI performed in a Tunisian family. An amniotic fluid sample was carried out at 16 weeks of gestation in a 32-year-old Tunisian woman who consulted for prenatal diagnosis. The 1471 delTTCT mutation at homozygous state was 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.
authors: Biochemistry Laboratory, Rabta University Hospital, 1007 Jebbari, Tunis, Tunisia.
authors: Nadia
authors: N
authors: Esseghir
authors: Chiraz Souissi
authors: CS
authors: Bouchlaka
authors: Sondess Hadj
authors: SH
authors: Fredj
authors: Amel Ben
authors: AB
authors: Chehida
authors: Hatem
authors: H
authors: Azzouz
authors: Monique
authors: M
authors: Fontaine
authors: Neji
authors: N
authors: Tebib
authors: Marie Françoise Ben
authors: MF
authors: Dridi
authors: Gilbert
authors: G
authors: Briand
authors: Taieb
authors: T
authors: Messaoud
authors: Amel Ben Ammar
authors: AB
authors: Elgaaied
authors: Naziha
authors: N
authors: Kaabachi