Biallelic loss-of-function variations in BTD cause profound biotinidase deficiency in an Indian patient.

Autor: Kannan B; 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., Jayaseelan VP; 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., Arumugam P; 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. paramasivama.sdc@saveetha.com., Navamani HK; Department of Obstetrics and Gynecology, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha Medical College and Hospital, Saveetha University, Chennai, 602 105, TN, India., Dv L; Department of Pediatrics, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha University, Chennai, 602 105, TN, India.
Jazyk: angličtina
Zdroj: Molecular biology reports [Mol Biol Rep] 2024 Aug 09; Vol. 51 (1), pp. 900. Date of Electronic Publication: 2024 Aug 09.
DOI: 10.1007/s11033-024-09827-5
Abstrakt: Background: 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.
Methods: 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.
Results: 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.
Conclusion: 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.
(© 2024. The Author(s), under exclusive licence to Springer Nature B.V.)
Databáze: MEDLINE
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