title: A novel 22bp deletion in a Tunisian phenylketonuria family.
abstract: Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by a deficiency of phenylalanine hydroxylase. To date, more than 530 mutations in the PAH gene have been reported. In Tunisia, this disease seems to be the result of point mutations, few studies have been published about molecular defects of PKU in our country. In this study, we report a novel deletion in exon 6 of two brothers in a Tunisian family after DHPLC analysis and sequencing of the exon 6 of the PAH gene.
authors.affiliation: Biochemistry Laboratory, Rabta Hospital, Jebbari, Tunis, Tunisia.
authors.forename: S
authors.initials: S
authors.lastname: Khemir
authors.forename: H
authors.initials: H
authors.lastname: Siala
authors.forename: H
authors.initials: H
authors.lastname: Azzouz
authors.forename: N
authors.initials: N
authors.lastname: Tebib
authors.forename: J L
authors.initials: JL
authors.lastname: Dhondt
authors.forename: T
authors.initials: T
authors.lastname: Messaoud
authors.forename: S
authors.initials: S
authors.lastname: Abdelhak
authors.forename: M F
authors.initials: MF
authors.lastname: Ben Dridi
authors.forename: N
authors.initials: N
authors.lastname: Kaabachi
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D003241:Consanguinity; D005091:Exons; D006801:Humans; D008297:Male; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics; D010661:Phenylketonurias / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*; D014416:Tunisia
chemical_list: D010651:Phenylalanine Hydroxylase