title: Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families.
abstract: The aim of this study was to identify the genetic defect that is responsible for aniridia and congenital cataracts in two Tunisian families. Sequencing of the PAX6 gene in family F1 detected a novel c.265C>T transition in exon 6. In family F2, the previously described c.718C>T mutation in PAX6 was detected in the four affected members. This study adds new mutation to those previously reported in PAX6, providing further evidence for the genetic and phenotypic heterogeneity in individuals with aniridia ocular malformations.
authors.affiliation: Faculté de Médecine de Tunis, Laboratoire Génétique Humaine , Tunis, Tunisia.
authors.forename: Manèl
authors.initials: M
authors.lastname: Chograni
authors.affiliation: Faculté de Médecine de Tunis, Laboratoire Génétique Humaine , Tunis, Tunisia.
authors.forename: Kaouther
authors.initials: K
authors.lastname: Derouiche
authors.affiliation: Faculté de Médecine de Tunis, Laboratoire Génétique Humaine , Tunis, Tunisia.
authors.forename: Myriam
authors.initials: M
authors.lastname: Chaabouni
authors.affiliation: Faculté de Médecine de Tunis, Laboratoire Génétique Humaine , Tunis, Tunisia.
authors.forename: Imen
authors.initials: I
authors.lastname: Lariani
authors.affiliation: Faculté de Médecine de Tunis, Laboratoire Génétique Humaine, Tunis, Tunisia; Charles Nicolle Hospital, Congenital and Hereditary Disorders Department, Tunis, Tunisia.
authors.forename: Habiba Chaabouni
authors.initials: HC
authors.lastname: Bouhamed