ArticlePloS one2017
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 6 papers.
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6 citing papers in PubMed, 28 citations in OpenAlex.
- Biotinidase Deficiency in Children: Clinical Outcomes and Neuroimaging Correlations.Iranian journal of child neurology · 2026Article
- Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs.Genetics and molecular biology · 2022Article
- The novel homozygous p.Asn197_Ser201del mutation in BTD gene is associated with profound biotinidase deficiency in an Iranian consanguineous family.Molecular biology reports · 2020Article
- Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency.Journal of personalized medicine · 2020Article
- Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population.Orphanet journal of rare diseases · 2019Article
- Article
Corrections and comments
- Erratum issued
Authors and funding
17 authors at 10 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionThe association between the BTD genotype and biochemical phenotype [profound biotinidase deficiency (BD), partial BD or heterozygous activity] is not always consistent. This study aimed to investigate the genotype-biochemical phenotype association in patients with low biotinidase activity.
methodsAll exons, the 5'UTR and the promoter of the BTD gene were sequenced in 72 Brazilian individuals who exhibited low biotinidase activity. For each patient, the expected biochemical phenotype based on the known genotype was compared with the observed biochemical phenotype. Additional non-genetic factors that could affect the biotinidase activity were also analysed.
resultsMost individuals were identified by neonatal screening (n = 66/72). When consecutive results for the same patient were compared, age, prematurity and neonatal jaundice appeared to affect the level of biotinidase activity. The biochemical phenotype at the time of the second blood collection changed in 11/22 patients compared to results from the first sample. Three novel variants were found: c.1337T>C (p.L446P), c.1466A>G (p.N489S) and c.962G>A (p.W321*). Some patients with the same genotype presented different biochemical phenotypes. The expected and observed biochemical phenotypes agreed in 68.5% of cases (concordant patients). The non-coding variants c.-183G>A, c.-315A>G and c.-514C>T were present in heterozygosis in 5/17 discordant patients. In addition, c.-183G>A and c.-514C>T were also present in 10/37 concordant patients.
conclusionsThe variants found in the promoter region do not appear to have a strong impact on biotinidase activity. Since there is a disparity between the BTD genotype and biochemical phenotype, and biotinidase activity may be affected by both genetic and non-genetic factors, we suggest that the diagnosis of BD should be based on more than one measurement of plasma biotinidase activity. DNA analysis can be of additional relevance to differentiate between partial BD and heterozygosity.
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