Publication detail

Identification and characterization of BTD gene  mutations in Jordanian children with biotinidase deficiency

AL-EITAN, L.N. ALQA'QA', K. AMAYREH, W. KHASAWNEH, R. ALJAMAL, H. AL-ABED, M. HADDAD, Y. RAWASHDEH, T. JARADAT, Z. HADDAD, H.

Original Title

Identification and characterization of BTD gene  mutations in Jordanian children with biotinidase deficiency

English Title

Identification and characterization of BTD gene  mutations in Jordanian children with biotinidase deficiency

Type

journal article - other

Language

en

Original Abstract

Biotinidase deficiency is an autosomal recessive metabolic disorder whose diagnosis currently depends on clinical symptoms and a biotinidase enzyme assay. This study aimed to investigate the mutational status and enzymatic activity of biotinidase deficiency in seven unrelated Jordanian families including 10 patients and 17 healthy family members. Amplified DNA was analyzed by the automated Sanger sequencing method, and the enzymatic assay was performed using a colorimetric assessment. Biotinidase level was significantly lower (p < 0.001) in BTD children compare to their non-affected family members. Genetic sequencing revealed six different mutations in Jordanian patients. One mutation was novel and located in exon 4, which could be a prevalent mutation for biotinidase deficiency in the Jordanian population. Identification of these common mutations and combing the enzymatic activity with genotypic data will help clinicians with regard to better genetic counseling and management through implementing prevention programs in the future.

English abstract

Biotinidase deficiency is an autosomal recessive metabolic disorder whose diagnosis currently depends on clinical symptoms and a biotinidase enzyme assay. This study aimed to investigate the mutational status and enzymatic activity of biotinidase deficiency in seven unrelated Jordanian families including 10 patients and 17 healthy family members. Amplified DNA was analyzed by the automated Sanger sequencing method, and the enzymatic assay was performed using a colorimetric assessment. Biotinidase level was significantly lower (p < 0.001) in BTD children compare to their non-affected family members. Genetic sequencing revealed six different mutations in Jordanian patients. One mutation was novel and located in exon 4, which could be a prevalent mutation for biotinidase deficiency in the Jordanian population. Identification of these common mutations and combing the enzymatic activity with genotypic data will help clinicians with regard to better genetic counseling and management through implementing prevention programs in the future.

Keywords

biotinidase deficiency; BTD; Jordan; enzyme assay; familial study; genetics

Released

31.03.2020

Pages from

1

Pages to

9

Pages count

9

URL

BibTex


@article{BUT164092,
  author="Yazan Abdulmajeed Eyadh {Haddad}",
  title="Identification and characterization of BTD gene  mutations in Jordanian children with biotinidase deficiency",
  annote="Biotinidase deficiency is an autosomal recessive metabolic disorder whose diagnosis currently depends on clinical symptoms and a biotinidase enzyme assay. This study aimed to investigate the mutational status and enzymatic activity of biotinidase deficiency in seven unrelated Jordanian families including 10 patients and 17 healthy family members. Amplified DNA was analyzed by the automated Sanger sequencing method, and the enzymatic assay was performed using a colorimetric assessment. Biotinidase level was significantly lower (p < 0.001) in BTD children compare to their non-affected family members. Genetic sequencing revealed six different mutations in Jordanian patients. One mutation was novel and located in exon 4, which could be a prevalent mutation for biotinidase deficiency in the Jordanian population. Identification of these common mutations and combing the enzymatic activity with genotypic data will help clinicians with regard to better genetic counseling and management through implementing prevention programs in the future.",
  chapter="164092",
  doi="10.3390/jpm10010004",
  howpublished="print",
  number="4",
  volume="10",
  year="2020",
  month="march",
  pages="1--9",
  type="journal article - other"
}