We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz., a deletion that is frequently observed in Central and Eastern Europe. The mutation, termed CFTRdele2,3(21 kb), deletes 21,080 bp spanning introns 1-3 of the CFTR gene. Transcript analyses have revealed that this deletion results in the loss of exons 2 and 3 in epithelial CFTR mRNA, thereby producing a premature termination signal within exon 4. In order to develop a simple polymerase chain reaction assay for this allele, we defined the end-points of the deletion at the DNA sequence level. We next screened for this mutation in a representative set of European and European-derived populations. Some 197 CF patients, including seven homozygotes, bearing this mutation have been identified during the course of our study. Clinical evaluation of CFTRdele2,3(21 kb) homozygotes and a comparison of compound heterozygotes for deltaF508/CFTRdele2,3(21 kb) with pairwise-matched deltaF508 homozygotes indicate that this deletion represents a severe mutation associated with pancreatic insufficiency and early age at diagnosis. Current data show that the mutation is particularly common in Czech (6.4% of all CF chromosomes), Russian (5.2%), Belorussian (3.3%), Austrian (2.6%), German (1.5%), Polish (1.5%), Slovenian (1.5%), Ukrainian (1.2%), and Slovak patients (1.1%). It has also been found in Lithuania, Latvia, Macedonia and Greece and has sporadically been observed in Canada, USA, France, Spain, Turkey, and UK, but not in CF patients from Bulgaria, Croatia, Romania or Serbia. Haplotype analysis has identified the same extragenic CF-haplotype XV-2c/KM. 19 "A" and the same infrequent intragenic microsatellite haplotype 16-33-13 (IVS8CA-IVS 17bTA-IVS 17bCA) in all examined CFTRdele2,3(21 kb) chromosomes, suggesting a common origin for this deletion. We conclude that the 21-kb deletion is a frequent and severe CF mutation in populations of Eastern- and Western-Slavic descent.

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We report on a 394delTT homozygous cystic fibrosis (CF) patient with severe disease progression. At the diagnosis made at the age of 2.5 months, he suffered from macrocytic anaemia as the most prominent symptom of CF, malnutrition, hypoproteinaemia and profound hypoalbuminaemia, but demonstrated only minimal pulmonary symptoms. Abnormal sweat chlorides confirmed the diagnosis of CF. Severe pulmonary and liver disease caused death after 6 years.

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The general positive effect of warmer winters on the abundance of small-sized zooplankton in the following spring and early summer has been reported from different parts of the Baltic Sea, but the mechanism of this link is not clear. Although causal links cannot be deduced with confidence from observational data, sufficiently detailed analyses can nevertheless provide insights to the potential mechanisms. We present an example of such an analysis, scrutinizing the effects of winter and spring hydroclimate on the abundance of small-sized dominant calanoid copepods (Eurytemora affinis and Acartia spp.), using data from 2080 zooplankton samples collected over 55 years (1957–2012) from a shallow coastal habitat (Pärnu Bay, Gulf of Riga) in the Baltic Sea. Our results indicated that the milder winters brought about higher abundances, and reduced seasonality of small-sized copepods, whereas ambient sea surface temperature (SST) mostly affected the relative abundance of adult stages. The sliding window correlation tests revealed temporal shifts in the effects of controlling variables: with the continuous increase in SST, the effect of winter temperature on the abundance of Acartia spp. weakened. In contrast, E. affinis was consistently affected by SST, but the effect of winter temperature was more pronounced during the period of on average colder winters.