Btd gene mutations in biotinidase deficiency: Genotype-phenotype correlation

7Citations
Citations of this article
11Readers
Mendeley users who have this article in their library.

Abstract

Objective: To identify the biotinidase (BTD) gene mutations in patients with biotinidase deficiency in our region; and to determine the phenotype-genotype correlations in the presence of clinical findings. Study Design: Descriptive study. Place and Duration of Study: Department of Medical Genetics and Pediatric Metabolism Outpatient Clinic, Faculty of Medicine, Harran University, between January 2018 and June 2020. Methodology: Two hundred and nine patients, who were found positive for biotinidase deficiency in heel blood screening, were included. Genomic DNA was isolated from peripheral blood. Next-generation DNA sequencing analysis was performed using primers covering the exon regions of the BTD gene. The results were analysed by the mutation surveyor programme. Results: The most common mutation was c.1330 GC (p.D444H) and the second most common mutation was c.470 GA (p.R157H). The majority of the mutations are missense; and they are especially located in the exon 4. The most frequent mutations were found to be D444H and R157H with a rate of 66.66% in symptomatic patients. Conclusion: Common mutations in BTD deficiencies were indentified. Associating them with phenotype-genotype data will assist clinicians in better genetic counselling and management in the future by implementing prevention programmes.

Cite

CITATION STYLE

APA

Oz, O., Karaca, M., Atas, N., Gonel, A., & Ercan, M. (2021). Btd gene mutations in biotinidase deficiency: Genotype-phenotype correlation. Journal of the College of Physicians and Surgeons Pakistan, 31(7), 780–785. https://doi.org/10.29271/jcpsp.2021.07.780

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free