First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children.
| Autor: | Senanayake DN; Department of Chemical Pathology, North Columbo Teaching Hospital, Columbo, Sri Lanka., Jasinge EA; Chemical Pathology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka., Pindolia K; Department of Research Administration, Henry Ford Health System, Detroit, MI 48202, United States.; Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, United States., Wanigasinghe J; Pediatric Neurology, University of Colombo, Columbo, Sri Lanka., Monaghan K; GeneDx, Gaithersburg, MD 20877, United States., Suchy SF; GeneDx, Gaithersburg, MD 20877, United States., Wei S; Department of Pediatrics and Human Development, Michigan State University, East Lansing, MI 48824, United States., Jaysena S; Chemical Pathology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka., Wolf B; Department of Research Administration, Henry Ford Health System, Detroit, MI 48202, United States.; Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, United States. |
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| Jazyk: | angličtina |
| Zdroj: | Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2015 Feb 07; Vol. 2, pp. 81-84. Date of Electronic Publication: 2015 Feb 07 (Print Publication: 2015). |
| DOI: | 10.1016/j.ymgmr.2015.01.005 |
| Abstrakt: | 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. |
| Databáze: | MEDLINE |
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