First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children

Danika Nadeen Senanayake, Eresha A. Jasinge, Kirit Pindolia, Jithangi Wanigasinghe, Kristin Monaghan, Sharon F. Suchy, Sainan Wei, Subashini Jaysena, Barry Wolf*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

Abstract

We report three symptomatic children with profound biotinidase deficiency from Sri Lanka. All three children presented with typical clinical features of the disorder. The first is homozygous for a missense mutation in the BTD gene (c.98-104 del7insTCC; p.Cys33PhefsX36) that is commonly seen in the western countries, the second is homozygous for a novel missense mutation (p.Ala439Asp), and the third is the first reported instance of a contiguous gene deletion causing the enzyme deficiency. In addition, this latter finding exemplifies the importance of considering a deletion within the BTD gene for reconciling enzymatic activity with genotype, which can occur in asymptomatic children who are identified by newborn screening.

Original languageEnglish (US)
Pages (from-to)81-84
Number of pages4
JournalMolecular Genetics and Metabolism Reports
Volume2
DOIs
StatePublished - Mar 2015

Keywords

  • Biotinidase
  • Biotinidase deficiency
  • Congenital myasthenic syndrome
  • Contiguous gene deletion
  • Enzyme deficiency
  • Mutation

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Endocrinology

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