Detail publikace

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.

Originální název

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

Typ

článek v časopise ve Web of Science, Jimp

Jazyk

angličtina

Originální abstrakt

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.

Klíčová slova

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

Autoři

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

Vydáno

31. 3. 2020

Nakladatel

MDPI

ISSN

2075-4426

Periodikum

Journal of personalized medicine

Ročník

10

Číslo

1

Stát

Švýcarská konfederace

Strany od

1

Strany do

9

Strany počet

9

URL

https://www.mdpi.com/2075-4426/10/1/4

BibTex

@article{BUT164092,
  author="AL-EITAN, L.N. and ALQA'QA', K. and AMAYREH, W. and KHASAWNEH, R. and ALJAMAL, H. and AL-ABED, M. and HADDAD, Y. and RAWASHDEH, T. and JARADAT, Z. and HADDAD, H.",
  title="Identification and characterization of BTD gene  mutations in Jordanian children with biotinidase deficiency",
  journal="Journal of personalized medicine",
  year="2020",
  volume="10",
  number="1",
  pages="1--9",
  doi="10.3390/jpm10010004",
  issn="2075-4426",
  url="https://www.mdpi.com/2075-4426/10/1/4"
}