Evidence map›Paper›PMID 39120718›Full record

ArticleMolecular biology reports2024

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

Balachander Kannan, Vijayashree Priyadharsini Jayaseelan, Paramasivam Arumugam, Hephzibah Kirubamani Navamani, Lal Dv

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Article in Molecular biology reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Balachander KannanMolecular 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.
Vijayashree Priyadharsini JayaseelanClinical 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.
Paramasivam ArumugamMolecular 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.
Hephzibah Kirubamani NavamaniDepartment of Obstetrics and Gynecology, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha Medical College and Hospital, Saveetha University, Chennai, 602 105, TN, India.
Lal DvDepartment of Pediatrics, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha University, Chennai, 602 105, TN, India.

Funding

Science and Engineering Research Board EMEQ/2019/000411
6 · The paper itself

Abstract

backgroundBiotinidase 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.

methodsA 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.

resultsThe 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.

conclusionThis 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.

Indexed as

BiotinidaseBiotinidase DeficiencyAllelesCodon, NonsenseHumansIndiaInfantLoss of Function MutationMaleBiotinidaseCodon, NonsenseBiotinidase deficiencyBTDGeneticsHealthMutationNeurology

Identifiers

PMID39120718

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