First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children
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 w...
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| Format: | Article |
| Language: | English |
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Elsevier
2015-03-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426915000075 |
| _version_ | 1811232586587963392 |
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| author | Danika Nadeen Senanayake Eresha. A. Jasinge Kirit Pindolia Jithangi Wanigasinghe Kristin Monaghan Sharon F. Suchy Sainan Wei Subashini Jaysena Barry Wolf |
| author_facet | Danika Nadeen Senanayake Eresha. A. Jasinge Kirit Pindolia Jithangi Wanigasinghe Kristin Monaghan Sharon F. Suchy Sainan Wei Subashini Jaysena Barry Wolf |
| author_sort | Danika Nadeen Senanayake |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-12T11:06:30Z |
| format | Article |
| id | doaj.art-2e0eab115e2c48ec8e96a2eefb9686ab |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-04-12T11:06:30Z |
| publishDate | 2015-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-2e0eab115e2c48ec8e96a2eefb9686ab2022-12-22T03:35:45ZengElsevierMolecular Genetics and Metabolism Reports2214-42692015-03-012C818410.1016/j.ymgmr.2015.01.005First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan childrenDanika Nadeen Senanayake0Eresha. A. Jasinge1Kirit Pindolia2Jithangi Wanigasinghe3Kristin Monaghan4Sharon F. Suchy5Sainan Wei6Subashini Jaysena7Barry Wolf8Department of Chemical Pathology, North Columbo Teaching Hospital, Columbo, Sri LankaChemical Pathology, Lady Ridgeway Hospital for Children, Colombo, Sri LankaDepartment of Research Administration, Henry Ford Health System, Detroit, MI 48202, United StatesPediatric Neurology, University of Colombo, Columbo, Sri LankaGeneDx, Gaithersburg, MD 20877, United StatesGeneDx, Gaithersburg, MD 20877, United StatesDepartment of Pediatrics and Human Development, Michigan State University, East Lansing, MI 48824, United StatesChemical Pathology, Lady Ridgeway Hospital for Children, Colombo, Sri LankaDepartment of Research Administration, Henry Ford Health System, Detroit, MI 48202, United StatesWe 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.http://www.sciencedirect.com/science/article/pii/S2214426915000075BiotinidaseBiotinidase deficiencyContiguous gene deletionMutationEnzyme deficiencyCongenital myasthenic syndrome |
| spellingShingle | Danika Nadeen Senanayake Eresha. A. Jasinge Kirit Pindolia Jithangi Wanigasinghe Kristin Monaghan Sharon F. Suchy Sainan Wei Subashini Jaysena Barry Wolf First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children Molecular Genetics and Metabolism Reports Biotinidase Biotinidase deficiency Contiguous gene deletion Mutation Enzyme deficiency Congenital myasthenic syndrome |
| title | First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children |
| title_full | First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children |
| title_fullStr | First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children |
| title_full_unstemmed | First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children |
| title_short | First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children |
| title_sort | first contiguous gene deletion causing biotinidase deficiency the enzyme deficiency in three sri lankan children |
| topic | Biotinidase Biotinidase deficiency Contiguous gene deletion Mutation Enzyme deficiency Congenital myasthenic syndrome |
| url | http://www.sciencedirect.com/science/article/pii/S2214426915000075 |
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