Molecular Biology Laboratory, Centre for Cellular and Molecular Research, Saveetha Dental College and Hospitals, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha University, Chennai, 600 077, TN, India.
Clinical Genetics Laboratory, Centre for Cellular and Molecular Research, Saveetha Dental College and Hospitals, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha University, Chennai, 600 077, TN, India.
Mol Biol Rep. 2024 Aug 9;51(1):900. doi: 10.1007/s11033-024-09827-5.
Biotinidase deficiency (BD) is a rare, autosomal recessive metabolic disorder characterized by neurocutaneous symptoms. This study investigates a case of profound BD in an Indian infant and the underlying genetic basis.
A 10-month-old male presenting with seizures, hypotonia, ataxia, visual impairments, and developmental delay underwent biochemical and genetic analysis. Biotinidase activity was measured using an ELISA kit. Sanger sequencing of the biotinidase (BTD) gene was performed to identify genetic variations. In silico analysis was employed to assess the potential impact of the identified variants.
The infant biotinidase activity was undetectable and its suggest profound biotinidase deficiency. Novel biallelic loss-of-function variations (c.903G > A and c.946 C > T) in the BTD gene were identified, leading to premature stop codons and truncated, non-functional protein fragments.
This case expands our knowledge of BD genetic diversity and underscores the critical role of early diagnosis and newborn screening programs in managing this treatable condition.
生物素酶缺乏症（BD）是一种罕见的常染色体隐性代谢疾病，其特征为神经皮肤症状。本研究调查了一名印度婴儿的严重 BD 病例及其潜在的遗传基础。
一名 10 月龄男性因癫痫发作、肌张力低下、共济失调、视力障碍和发育迟缓就诊，接受了生化和基因分析。使用 ELISA 试剂盒测量生物素酶活性。对生物素酶（BTD）基因进行 Sanger 测序以鉴定遗传变异。采用计算机分析评估鉴定出的变异的潜在影响。
婴儿的生物素酶活性检测不到，提示为严重生物素酶缺乏症。在 BTD 基因中发现了新的双等位基因失活变异（c.903G>A 和 c.946C>T），导致提前终止密码子和截断的、无功能的蛋白片段。
该病例扩展了我们对 BD 遗传多样性的认识，并强调了早期诊断和新生儿筛查计划在管理这种可治疗疾病中的关键作用。
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