Biotinidase deficiency: Novel mutations in Algerian patients

• Published in: Gene Vol. 536; no. 1; pp. 193 - 196
• Main Authors: Tiar, A., Mekki, A., Nagara, M., Rhouma, F. Ben, Messaoud, O., Halim, N. Ben, Kefi, R., Hamlaoui, M.T., Lebied, A., Abdelhak, S.
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 15.02.2014; Elsevier
• Subjects: Algeria; Biotinidase; Biotinidase Deficiency - diagnosis; Biotinidase Deficiency - genetics; Cascade screening; Codon, Nonsense; Consanguinity; DNA Mutational Analysis; Family; Humans; Infant; Infant, Newborn; Life Sciences; Mutagenesis, Insertional; Mutation; Polymorphism, Single Nucleotide; Sequence Deletion; Algeria; DLBCL; OR; Biotinidase; CI; PCR-RFLP; IL-10; NHL; MAF; AS-PCR; HWE; SNPs; et al; Algeria; Mutation; Cascade screening; diffuse large B-cell lymphoma; odds ratio; interleukin-10; polymerase chain reaction and restriction fragment length polymorphism; Hardy–Weinberg equilibrium; non-Hodgkin's lymphoma; single nucleotide polymorphisms; allele-specific polymerase chain reaction; et alia; minor allele frequency; confidence interval
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/j.gene.2013.02.011

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. ► This is the first study on clinical and molecular investigation of BD in Algeria. ► Three novel mutations were identified: c.631delC, c.1557T>G and c.324-325insTA. ► As newborn screening is not available, cascade genetic screening could be performed.