Biyotinidaz Eksikliği Olan Hastaların Klinik, Biyokimyasal ve Moleküler Genetik Analizlerinin Değerlendirilmesi

Abstract

ÖZ Amaç: Biyotinidaz eksikliği, biyotin döngüsünün kalıtsal bir hastalığıdır. Bu çalışmanın amacı, biotinidaz eksikliği olan hastaların klinik, biyokimyasal ve genetik analizlerini değerlendirmek ve genotip-fenotip korelasyonunu yapmaktır. Gereç ve Yöntemler: Temmuz 2018-Aralık 2023 tarihleri arasında 90 biyotinidaz eksikliği tanısıyla takip edilen hastaların klinik, laboratuvar ve moleküler genetik analizleri retrospektif olarak değerlendirildi. Bulgular: Biyotinidaz eksikliği olan 33 hastada (%36,7) BTD geninde c.1270G>C (p. Asp424His) homozigot mutasyonu tespit edildi. On iki hastada (%13,3) c.410G>A (p. Arg137His) /c.1270G>C (p. Asp424His) bileşik heterozigot mutasyon tespit edildi. [c.1270G>C (p. Asp424His) mutasyonu olan hastalarda diğer sık görülen mutasyonlara kıyasla daha yüksek biyotinidaz aktiviteleri gözlendi. Sonuç: Çalışmamızda BTD geninde saptanan mutasyonların sıklığı literatürle uyumlu bulundu. Biyotinidaz eksikliği olan hastalarda tanının kesin olarak genetik analizle doğrulanması ve diğer aile bireylerinin araştırılması gerekmektedir.

Keywords

• Biyotinidaz eksikliği,
• Çocuk,
• Mutasyon,
• Tarama,

Evaluation of Clinical, Biochemical and Molecular Genetic Analyses of the Patients with Biotinidase Deficiency

Abstract

ABSTRACT Objective: Biotinidase deficiency is a hereditary disorder of the biotin cycle. The aim of this study is to evaluate the clinical, biochemical, and genetic findings in patients with biotinidase deficiency and to establish a genotype–phenotype correlation. Materials and Methods: Clinical, laboratory and molecular genetic analyses of the patients with 90 biotinidase deficiency between July 2018 and December 2023 were retrospectively evaluated. Results: c.1270G>C (p. Asp424His) homozygous mutation was detected in the BTD gene in 33 (36.7%) patients with biotinidase deficiency. c.410G>A (p. Arg137His)/c.1270G>C (p. Asp424His) compound heterozygous mutation in 12 (13.3%) patients. Patients with [c.1270G>C (p. Asp424His) mutation had higher biotinidase activities compared with other frequently detected mutations. Conclusion: The frequency of mutations detected in the BTD gene in our study was consistent with the literature. The diagnosis must be definitively confirmed by genetic analysis and other family members must be investigated in patients with biotinidase deficiency.

Keywords

• Biotinidase deficiency,
• Child,
• Mutation,
• Screening,

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