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

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F62156489%3A43210%2F20%3A43917453" target="_blank" >RIV/62156489:43210/20:43917453 - isvavai.cz</a>

Alternative codes found

RIV/00216305:26620/20:PU136551

Result on the web

<a href="https://doi.org/10.3390/jpm10010004" target="_blank" >https://doi.org/10.3390/jpm10010004</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3390/jpm10010004" target="_blank" >10.3390/jpm10010004</a>

Result language

angličtina

Original language name

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

Original language description

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 &lt; 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.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30218 - General and internal medicine

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2020

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Journal of Personalized Medicine

ISSN

2075-4426

e-ISSN

—

Volume of the periodical

10

Issue of the periodical within the volume

1

Country of publishing house

CH - SWITZERLAND

Number of pages

10

Pages from-to

4

UT code for WoS article

000523732200004

EID of the result in the Scopus database

2-s2.0-85078496877