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

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.

SUBMITTER: Senanayake DN

PROVIDER: S-EPMC5471155 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature

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

Senanayake Danika Nadeen DN Jasinge Eresha A EA Pindolia Kirit K Wanigasinghe Jithangi J Monaghan Kristin K Suchy Sharon F SF Wei Sainan S Jaysena Subashini S Wolf Barry B

Molecular genetics and metabolism reports 20150207

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 <i>BTD</i> 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. ...[more]

PMID: 28649532

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Project description:Background:Obtaining reliable food portion size estimations in dietary surveys found to be a difficult task. A food atlas is a set of photograph series depicting different amounts of a particular food, usually bound together in a single volume that can be used to describe portion sizes. By this paper we aim to explain the methods used in developing a photographic food atlas for Sri Lankan adults and to discuss its usage, advantages and limitations. Methods:Foods that are commonly consumed in Sri Lanka were recognized by a local nutritional survey, market survey and interviewing nutrition experts. In obtaining food items, certain dishes were prepared according to a standard recipe book while other items were purchased from recognized restaurants and the local market. White color crockery or/with blue color board was used to present the food items and they were photographed by a professional photographer employing a camera setup recommended for food photography. Three types of photographs have been used to illustrate the food items; serial, range and guide. Mainly the serial photographs were taken using two cameras: one fixed at an angle of 5° to capture aerial views, and the other placed at an angle of 45° to represent the view of a person of average height, sitting at a table, looking at a plate on the table in front of him. The liquid portion series were photographed at an angle of 90° to get life-size images. The range and guide photographs were taken free hand so that all the items could be captured in the best way possible. Results:A total of 125 foods that are commonly consumed by Sri Lankan adults were selected to be depicted in the atlas; serial photographs of increasing portion sizes (n = 88 foods); range photographs depicting a range of sizes/varieties of a particular food, (n = 11), and guide photographs which represent the brands/types of a certain food item/category available in the market (n = 26). Conclusion:The food atlas will be a valuable resource for dietary surveys in Sri Lanka as well as in other South Asian countries where similar foods are consumed.

Project description:BackgroundMelioidosis is a life threatening infectious disease caused by the gram-negative bacillus Burkholderia pseudomallei predominantly found in southeast Asia and northern Australia. Studying the host transcription profiles in response to infection is crucial for understanding disease pathogenesis and correlates of disease severity, which may help improve therapeutic intervention and survival. The aim of this study was to analyze gene expression levels of human host factors in melioidosis patients and establish useful correlation with disease biomarkers, compared to healthy individuals and patients with sepsis caused by other pathogens.MethodsThe study population consisted of 30 melioidosis cases, 10 healthy controls and 10 sepsis cases caused by other pathogens. Total RNA was extracted from peripheral blood mononuclear cells (PBMC's) of study subjects. Gene expression profiles of 25 gene targets including 19 immune response genes and 6 epigenetic factors were analyzed by real time quantitative polymerase chain reaction (RT-qPCR).Principal findingsInflammatory response genes; TLR4, late onset inflammatory mediator HMGB1, genes associated with antigen presentation; MICB, PSMB2, PSMB8, PSME2, epigenetic regulators; DNMT3B, HDAC1, HDAC2 were significantly down regulated, whereas the anti-inflammatory gene; IL4 was up regulated in melioidosis patients compared to sepsis cases caused by other pathogens. Septicaemic melioidosis cases showed significant down regulation of IL8 compared to sepsis cases caused by other pathogens. HMGB1, MICB, PSMB8, PSMB2, PSME2, HDAC1, HDAC2 and DNMT3B showed consistent down regulation of gene expression in melioidosis patients compared to other sepsis infection, irrespective of comorbidities such as diabetes, duration of clinical symptoms and antibiotic treatment.SignificanceSpecific immune response genes and epigenetic regulators are differentially expressed among melioidosis patients and patients with sepsis caused by other pathogens. Therefore, these genes may serve as biomarkers for disease diagnosis to distinguish melioidosis from cases of sepsis due to other infections and therapeutic intervention for melioidosis.

Dataset Information

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

Publications

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

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