Biotinidase deficiency: novel mutations in Algerian patients
| Autor: | Olfa Messaoud, Afaf Tiar, Rym Kefi, A. Mekki, M.T. Hamlaoui, F. Ben Rhouma, A. Lebied, Sonia Abdelhak, Majdi Nagara, N. Ben Halim |
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| Přispěvatelé: | Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP), Université de Tunis El Manar (UTM), Pediatric Department, CHU Nafissa Hamoud [Hussein Dey], Pediatric Critical Care Unit, This study was supported by the Tunisian Ministry of Scientific and Technological Research and High Education, Tunisian Ministry of Health and Algerian Ministry of Health |
| Rok vydání: | 2012 |
| Předmět: |
[SDV]Life Sciences [q-bio]
DNA Mutational Analysis Single-nucleotide polymorphism Biology medicine.disease_cause Polymorphism Single Nucleotide Exon Consanguinity Genetics medicine Humans Family Sequence Deletion Newborn screening Mutation Biotinidase Deficiency Biotinidase Biotinidase deficiency Cascade screening Infant Newborn Infant General Medicine medicine.disease 3. Good health Minor allele frequency Mutagenesis Insertional Codon Nonsense Algeria Mutation testing |
| Zdroj: | Gene Gene, Elsevier, 2013, epub ahead of print. ⟨10.1016/j.gene.2013.02.011⟩ |
| ISSN: | 1879-0038 0378-1119 |
| DOI: | 10.1016/j.gene.2013.02.011⟩ |
| Popis: | International audience; 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. |
| Databáze: | OpenAIRE |
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