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Gene. 2014 Feb 15;536(1):193-6. doi: 10.1016/j.gene.2013.02.011. Epub 2013 Feb 26.

Biotinidase deficiency: novel mutations in Algerian patients.

Author information

1
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.
2
Pediatric Department, Hussein-Dey Hospital, Algiers, Algeria.
3
Institut Pasteur de Tunis, Laboratoire de Génomique Biomédicale et Oncogénétique LR11IPT05, Tunis, 1002, Tunisia; Universitè Tunis El Manar, Tunis, 1068,Tunisia.
4
Pediatric Critical Care Unit, Hussein-Dey Hospital, Algiers, Algeria.

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.

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

PMID:
23481307
DOI:
10.1016/j.gene.2013.02.011
[Indexed for MEDLINE]

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