Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

PloS One
Taciane BorsattoIda V D Schwartz

Abstract

The 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. All 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. Most 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 ag...Continue Reading

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Citations

Mar 27, 2019·American Journal of Medical Genetics. Part a·Nara O CarvalhoMarcos B Viana
Oct 5, 2019·Expert Review of Neurotherapeutics·Jasmina R MilovanovićSrđan Stefanović
Jan 25, 2020·Journal of Personalized Medicine·Laith N Al-EitanHazem Haddad
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Aug 28, 2021·Journal of Pediatric Endocrinology & Metabolism : JPEM·Abdurrahman AkgunHasan Onal

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Methods Mentioned

BETA
PCR
ChIP-Seq

Software Mentioned

SIFT
SPSS Statistics
PolyPhen
Alibaba
Mutation Taster
ENCODE ChIP - Seq Significance Tool
MAFFT
ECR Browser

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