ArticleEuropean journal of pediatrics2015
Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.
Article in European journal of pediatrics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 38 citations in OpenAlex.
- Biochemical and Clinical Characterization of a Patient with Partial Biotinidase Deficiency Carrying the Rare BTD c.690C>G (p.Phe230Leu) Variant: A Case Report.Life (Basel, Switzerland) · 2026Article
- Characterization of a Novel BTD Hypomorphic Variant in a Patient with Complex Neurodevelopmental Delay: Resolving Actionable Metabolic Vulnerabilities Beyond Borderline Plasma Biochemistry.International journal of molecular sciences · 2026Article
- Assessment of biotinidase activity changes over time in biotinidase deficient patients.Frontiers in pediatrics · 2026Article
- Evaluation of readability and understandability of biotinidase deficiency information online.Journal of community genetics · 2025Article
- The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.International journal of molecular sciences · 2025Article
- Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency.European journal of pediatrics · 2024Article
- A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.Journal of pediatric genetics · 2023Review
- Article
- Developmental and behavioral outcomes of preschool-aged children with biotinidase deficiency identified by newborn screening.European journal of pediatrics · 2021Article
- Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population.Molecular genetics and metabolism reports · 2020Article
- Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency.Journal of personalized medicine · 2020Article
- Biotinidase Deficiency: Prevalence, Impact And Management Strategies.Pediatric health, medicine and therapeutics · 2020Review
- A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.Metabolic brain disease · 2017Article
- Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.European journal of human genetics : EJHG · 2016Article
- Outcomes of oral biotin treatment in patients with biotinidase deficiency - Twenty years follow-up.Molecular genetics and metabolism reports · 2015Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledThe incidence of biotinidase deficiency in Turkey is currently one of the highest in the world. To expand upon the information about the biotinidase gene (BTD) variations in Turkish patients, we conducted a mutation screening in a large series (n = 210) of probands with biotinidase deficiency, using denaturing high-performance liquid chromatography and direct DNA sequencing. The putative effects of novel mutations were predicted by computational program. Twenty-six mutations, including six novels (p.C143F, p.T244I, c.1212-1222del11, c.1320delG, p.V457L, p.G480R) were identified. Nine of the patients were symptomatic at the initial clinical assessment with presentations of seizures, encephalopathy, and lactic acidemia. The most common mutation in this group of symptomatic patients was c.98-104 del7ins3. Among the screened patients, 72 have partial and 134 have profound biotinidase deficiency (BD) of which 106 are homozygous for BTD mutations. The common mutations (p.R157H, p.D444H, c.98-104del7ins3, p.T532M) cumulatively accounted for 72.3% of all the mutant alleles in the Turkish population.
conclusionThe identification of common mutations and hot spot regions of the BTD gene in Turkish patients is important for mutation screening in the Turkish population and helps to ascertain carriers, may have impact on genetic counseling and implementing prevention programs.
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