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

摘要

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.