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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Biotinidase deficiency: Novel mutations in Algerian patients
Gene, Volume 536, No. 1, Year 2014
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Description
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. © 2013.
Authors & Co-Authors
Tiar, Afaf
Tunisia, Tunis
Institut Pasteur de Tunis
Tunisia, Tunis
Université de Tunis el Manar
Mekki, Azzeddine
Algeria, Algiers
Centre Hospitalier Universitaire Nafissa Hamoud
Nagara, Majdi
Tunisia, Tunis
Institut Pasteur de Tunis
Tunisia, Tunis
Université de Tunis el Manar
Rhouma, Faten Ben
Tunisia, Tunis
Institut Pasteur de Tunis
Tunisia, Tunis
Université de Tunis el Manar
Messaoud, Olfa
Tunisia, Tunis
Institut Pasteur de Tunis
Tunisia, Tunis
Université de Tunis el Manar
Ben-Halim, Nizar
Tunisia, Tunis
Institut Pasteur de Tunis
Tunisia, Tunis
Université de Tunis el Manar
Kefi, R.
Tunisia, Tunis
Institut Pasteur de Tunis
Tunisia, Tunis
Université de Tunis el Manar
Hamlaoui, Mohamed Taher
Algeria, Algiers
Centre Hospitalier Universitaire Nafissa Hamoud
Lebied, A.
Algeria, Algiers
Centre Hospitalier Universitaire Nafissa Hamoud
Abdelhak, Sonia
Tunisia, Tunis
Institut Pasteur de Tunis
Tunisia, Tunis
Université de Tunis el Manar
Statistics
Citations: 10
Authors: 10
Affiliations: 3
Identifiers
Doi:
10.1016/j.gene.2013.02.011
ISSN:
03781119
e-ISSN:
18790038
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health
Study Locations
Algeria