Biotinidase deficiency: Novel mutations in Algerian patients

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 consanguine...

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Bibliographic Details
Published in:Gene 2014-02, Vol.536 (1), p.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: Article
Language:English
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
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Summary: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.
ISSN:0378-1119
1879-0038
DOI:10.1016/j.gene.2013.02.011