Distribution of CFTR gene mutations in cystic fibrosis patients from Estonia

Teder, M.; Klaassen, T.; Oitmaa, Eneli; Kaasik, Krista; Metspalu, Andres

doi:10.1136/jmg.37.8.e16

Cited by 10 publications

(9 citation statements)

References 29 publications

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“…The p.F508del mutation had a frequency of 18.1% in our Iranian CF patients, this in contrast with European and other populations where the frequency of the p.F508del is more than 50% [24,[29][30][31][32]. The geographical distribution of the p.F508del shows a decreasing frequency from the Northwest to the Southeast of Europe [13,24,29,31,33,34].…”

Section: Discussioncontrasting

confidence: 76%

Analysis of the CFTR gene in Iranian cystic fibrosis patients: Identification of eight novel mutations

Alibakhshi

Kianishirazi

Cassiman

et al. 2008

Journal of Cystic Fibrosis

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Section: Discussioncontrasting

confidence: 76%

Analysis of the CFTR gene in Iranian cystic fibrosis patients: Identification of eight novel mutations

Alibakhshi

Kianishirazi

Cassiman

et al. 2008

Journal of Cystic Fibrosis

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“…commun.]. The studies of other genetic diseases (cystic fibrosis, phenylketonuria) in Estonia have shown that mutation frequency in Estonian and Russian patients is quite similar [19, 20]. The spectrum of CYP21A2 gene defects in Russian patients was similar to those reported in other Caucasian populations[15].…”

Section: Discussionsupporting

confidence: 60%

Incidence of Classical 21-Hydroxylase Deficiency and Distribution of <i>CYP21A2</i> Mutations in Estonia

Liivak

Tobi²,

Schlecht³

et al. 2008

Horm Res Paediatr

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Aims: To determine the incidence of classical 21-hydroxylase deficiency (21-OHD) in Estonia from 1978 to 2004, and describe their phenotype and genotype. Methods: All Estonian endocrinologists informed us about their patients with 21-OHD. The diagnosis was confirmed in 20 patients, who were all screened for 8 common mutations of the CYP21A2 gene. Results: The 27-year period incidence was 1:25,500. The incidence from 1992 was 1:16,100, which more accurately reflects the real situation in Estonia. The salt-wasting form (SW) was diagnosed in 14 (7 males) and the simple virilizing form in 6 patients (1 male). The median age at diagnosis of the SW form was 30 days in males and 2 days in females. The investigation of 34 unrelated alleles showed that a common deletion/conversion was the most frequent mutation in our group (7/34). Six other mutations were present: p.Ile172Asn (5/34), 8-bp deletion (3/34), intron-2 splice mutation (3/34), p.Arg356Trp (3/34), p.Gln318X (3/34) and a small conversion (2/34). Mutations in 8 alleles remained uncertain. Conclusions: The incidence of classical 21-OHD in Estonia in 1992–2004 was 1:16,100. The genotype of our patients is similar to those from other Caucasian populations. The relatively late age at diagnosis and the skewed female:male ratio supports the need for newborn screening for 21-OHD.

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“…Cohn et al (26) also reported an increased risk of ICP in CFTR carriers by analyzing 52 patients with ICP and identified 18 pathogenic CFTR alleles in 15 subjects. These similarities implied that complete study of the large CFTR genes with comparison of ethnic geographic control subjects might detect the association of CFTR with ICP (27) and other CFTR ‐related disease phenotypes (28, 29).…”

Section: Discussionmentioning

confidence: 99%

Spectrum of mutations and variants/haplotypes of CFTR and genotype–phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis

Chang¹,

Chang²,

Wei³

et al. 2007

Clinical Genetics

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Mutations in cystic fibrosis transmembrane conductance regulator (CFTR) gene have been reported in patients with chronic pancreatitis. The authors examine whether the mutations and haplotypes of CFTR will increase the risk of developing idiopathic chronic pancreatitis (ICP) in Chinese and their genotype and phenotype correlations. Seventy-eight patients with ICP and 200 geographically and ethnically matched controls in Taiwan were analyzed. The entire 27 coding and intronic regions of the CFTR gene were identified using heteroduplex analytical techniques and confirmed by sequencing analysis. The presence of 125G/C, 1001+10C>T, IVSTn(TG)m, 1540A>G, c2694T>G, and c4521G>A were determined by directing sequencing. Abnormal CFTR allele was found to be thrice as frequent in ICP patients as in controls (22/156 vs 19/400, p < 0.0001). T5 allele was associated with early onset of ICP. In six-loci haplotype analysis, 13 common haplotypes were assembled in the 278 individuals tested. The 125G/1001+11C/TG12/470M/2694T/4521G haplotype was associated with risk of ICP (odds ratio 11.3; 95% confidence interval 2.3-54.6, p = 0.008) in Chinese. The mutation spectrum is different from other ethnic groups. A population-specific panel of CFTR changes should be recommended for targeted populations including ICP in Chinese. It is important to design suitable screening programs for different populations.

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Distribution of CFTR gene mutations in cystic fibrosis patients from Estonia

Cited by 10 publications

References 29 publications

Analysis of the CFTR gene in Iranian cystic fibrosis patients: Identification of eight novel mutations

Analysis of the CFTR gene in Iranian cystic fibrosis patients: Identification of eight novel mutations

Incidence of Classical 21-Hydroxylase Deficiency and Distribution of <i>CYP21A2</i> Mutations in Estonia

Spectrum of mutations and variants/haplotypes of CFTR and genotype–phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis

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