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Genotype-phenotype correlation in three homozygotes and nine compound heterozygotes for the cystic fibrosis mutation 2183AA→G shows a severe phenotype
  1. M O KILINÇ*,
  2. V N NINIS*,
  3. A TOLUN*,
  5. T CASALS,
  6. A SAVOV,
  7. E DAGLI§,
  8. F KARAKOǧ,
  10. G HÜNER,
  11. F ÖZKINAY**,
  12. E DEMIR**,
  13. J L SECULI††,
  14. J PENA‡‡,
  15. C BOUSONO§§,
  17. C CALVO***,
  18. G GLOVER†††,
  19. I KREMENSKI‡‡‡
  1. * Department of Molecular Biology and Genetics, Bogaziçi University, Bebek 80815 Istanbul, Turkey
  2. Genetics Department, IRO, Barcelona, Spain
  3. Laboratory of Molecular Pathology, University Obstetrics and Gynecology Hospital, Sofia, Bulgaria
  4. § Pediatrics, Marmara University Hospital, Istanbul, Turkey
  5. Nutrition and Metabolic Disorders Division, Istanbul University Medical School, Istanbul, Turkey
  6. ** Pediatrics, Aegean University Medical School, Izmir, Turkey
  7. †† Cystic Fibrosis Unit, Pediatrics Service, Hospital S Juan Deu, Barcelona, Spain
  8. ‡‡ Pediatric Service, Hospital General, Santiago Compostela, Spain
  9. §§ Pediatric Service, Hospital Central, Oviedo, Spain
  10. ¶¶ Gastroenterology Service, Hospital La Fe, Valencia, Spain
  11. *** Pediatric Service, Hospital Clinico, Valladolid, Spain
  12. 169 ††† Centro Bioquimica Espinardo, Murcia, Spain
  13. ‡‡‡ Laboratory of Molecular Pathology, Medical University, Sofia, Bulgaria
  1. Dr Tolun, tolun{at}

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Editor—Cystic fibrosis (CF) is the most common lethal childhood disorder in white populations and occurs at a frequency of about 1/2500 with regional variations. Over 1000 mutations in the CF transmembrane conductance regulator (CFTR) gene accounting for the disease have been identified so far and the most common gene mutation is ΔF508.1 The frameshift mutation 2183AA→G in exon 13 was first described in three Canadian CF patients2 and later was shown to have a significant frequency in patients from mid and southern Europe. The frequency among CF patients is 9.3% in north east Italy,3 2.4% in the Tyrol,4 1-2.1% in Belgium,3 1.8% in Greece,5 1% in Bavaria, Bulgaria, and France,3 and 0.4% in mid and northern Germany.6 We identified three homozygotes among 120 Turkish patients (2.5%), two born to first cousin parents, three compound heterozygotes among 185 Bulgarian patients (0.8%), and seven compound heterozygotes among 650 Spanish patients (0.5%).7 The mutation was detected by denaturing gradient gel electrophoresis or single strand conformational analysis followed by DNA sequence analysis.

We report here the genotype-phenotype correlation in 12 patients with CF with the mutation 2183AA→G (three homozygous and nine compound heterozygous for 2183AA→G and other mutations). The anamnestic, clinical, and laboratory data are summarised in table 1. Pancreatic insufficiency (PI) was assessed by the fat content of stools and requirement of pancreatic enzyme replacement therapy. Gastrointestinal symptoms (GI) are abdominal cramps and …

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