title: Biotinidase deficiency: novel mutations in Algerian patients.
abstract: Biotinidase deficiency is an autosomal recessive disorder of biotin metabolism leading to varying degrees of neurologic and cutaneous symptoms when untreated. In the present study, we report the clinical features and the molecular investigation of biotinidase deficiency in four unrelated consanguineous Algerian families including five patients with profound biotinidase deficiency and one child characterized as partial biotinidase deficiency. Mutation analysis revealed three novel mutations, c.del631C and c.1557T>G within exon 4 and c.324-325insTA in exon 3. Since newborn screening is not available in Algeria, cascade screening in affected families would be very helpful to identify at risk individuals.
authors.affiliation: Institut Pasteur de Tunis, Laboratoire de Génomique Biomédicale et Oncogénétique LR11IPT05, Tunis, 1002, Tunisia; Universitè Tunis El Manar, Tunis, 1068,Tunisia. Electronic address: afaf.tiar@yahoo.fr.
authors.forename: A
authors.initials: A
authors.lastname: Tiar
authors.affiliation: Pediatric Department, Hussein-Dey Hospital, Algiers, Algeria.
authors.forename: A
authors.initials: A
authors.lastname: Mekki
authors.affiliation: Institut Pasteur de Tunis, Laboratoire de Génomique Biomédicale et Oncogénétique LR11IPT05, Tunis, 1002, Tunisia; Universitè Tunis El Manar, Tunis, 1068,Tunisia.
authors.forename: M
authors.initials: M
authors.lastname: Nagara
authors.affiliation: Institut Pasteur de Tunis, Laboratoire de Génomique Biomédicale et Oncogénétique LR11IPT05, Tunis, 1002, Tunisia; Universitè Tunis El Manar, Tunis, 1068,Tunisia.
authors.forename: F Ben
authors.initials: FB
authors.lastname: Rhouma
authors.affiliation: Institut Pasteur de Tunis, Laboratoire de Génomique Biomédicale et Oncogénétique LR11IPT05, Tunis, 1002, Tunisia; Universitè Tunis El Manar, Tunis, 1068,Tunisia.
authors.forename: O
authors.initials: O
authors.lastname: Messaoud
authors.affiliation: Institut Pasteur de Tunis, Laboratoire de Génomique Biomédicale et Oncogénétique LR11IPT05, Tunis, 1002, Tunisia; Universitè Tunis El Manar, Tunis, 1068,Tunisia.
authors.forename: N Ben
authors.initials: NB
authors.lastname: Halim
authors.affiliation: Institut Pasteur de Tunis, Laboratoire de Génomique Biomédicale et Oncogénétique LR11IPT05, Tunis, 1002, Tunisia; Universitè Tunis El Manar, Tunis, 1068,Tunisia.
authors.forename: R
authors.initials: R
authors.lastname: Kefi
authors.affiliation: Pediatric Critical Care Unit, Hussein-Dey Hospital, Algiers, Algeria.
authors.forename: M T
authors.initials: MT
authors.lastname: Hamlaoui
authors.affiliation: Pediatric Department, Hussein-Dey Hospital, Algiers, Algeria.
authors.forename: A
authors.initials: A
authors.lastname: Lebied
authors.affiliation: Institut Pasteur de Tunis, Laboratoire de Génomique Biomédicale et Oncogénétique LR11IPT05, Tunis, 1002, Tunisia; Universitè Tunis El Manar, Tunis, 1068,Tunisia.
authors.forename: S
authors.initials: S
authors.lastname: Abdelhak
mesh_terms: D000462:Algeria; D028921:Biotinidase Deficiency / Q000175:diagnosis / Q000235:genetics*; D018389:Codon, Nonsense; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005190:Family; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D016254:Mutagenesis, Insertional; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D017384:Sequence Deletion
chemical_list: D018389:Codon, Nonsense
keywords: AS-PCR; Algeria; Biotinidase; CI; Cascade screening; DLBCL; HWE; Hardy–Weinberg equilibrium; IL-10; MAF; Mutation; NHL; OR; PCR-RFLP; SNPs; allele-specific polymerase chain reaction; confidence interval; diffuse large B-cell lymphoma; et al.; et alia; interleukin-10; minor allele frequency; non-Hodgkin's lymphoma; odds ratio; polymerase chain reaction and restriction fragment length polymorphism; single nucleotide polymorphisms