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Journal Articles Gene Year : 2013

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.
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Dates and versions

pasteur-00860037 , version 1 (09-09-2013)

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A. Tiar, A. Mekki, M. Nagara, F Ben Rhouma, O. Messaoud, et al.. Biotinidase deficiency: Novel mutations in Algerian patients.. Gene, 2013, epub ahead of print. ⟨10.1016/j.gene.2013.02.011⟩. ⟨pasteur-00860037⟩

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