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Heterogeneity of disease-causing variants in the Swedish galactosaemia population: Identification of 16 novel GALT variants.

08:00 EDT 13th June 2019 | BioPortfolio

Summary of "Heterogeneity of disease-causing variants in the Swedish galactosaemia population: Identification of 16 novel GALT variants."

The aim was to determine disease-causing variants in the GALT gene which codes for the enzyme galactose-1-phosphate uridylyltransferase. Loss of activity of this enzyme causes classical galactosaemia - a life threatening, treatable disorder, included in the Swedish newborn screening programme since 1967. A total of 66 patients with the disease are known in Sweden and 56 index patients were investigated. An additional two patients with Duarte galactosaemia were included. The disease-causing variants were identified in all patients. As reported from other countries only a few variants frequently recur in severe disease. The two variants p.(Gln188Arg) (c.563A>G) and p.(Met142Lys) (c.425T>A) are present in several index patients whereas the remaining are found in one to three patients each. The most common variant, p.(Gln188Arg), has an allele frequency of 51 % in the cohort. A total of 16 novel variants were found among the 33 different variants in the cohort. Two of these are synonymous variants affecting splicing, demonstrating the importance of the evaluation of synonymous variants at the cDNA level. This article is protected by copyright. All rights reserved.

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This article was published in the following journal.

Name: Journal of inherited metabolic disease
ISSN: 1573-2665
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The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)

The number of new cases of a given disease during a given period in a specified population. It also is used for the rate at which new events occur in a defined population. It is differentiated from PREVALENCE, which refers to all cases, new or old, in the population at a given time.

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Monitoring of rate of occurrence of specific conditions to assess the stability or change in health levels of a population. It is also the study of disease rates in a specific cohort, geographic area, population subgroup, etc. to estimate trends in larger population. (From Last, Dictionary of Epidemiology, 2d ed)

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