Pediatrics & Neonatology
Volume 49, Issue 6 , Pages 240-244, December 2008

Phenotype and Genotype of Two Taiwanese Cystic Fibrosis Siblings and a Survey of Delta F508 in East Asians

  • Chao-Jen Lin

      Affiliations

    • Division of Pediatric Infectious Diseases, Changhua Christian Children's Hospital, Changhua, Taiwan, ROC
    • Department of Pediatrics, Changhua Christian Children's Hospital, Changhua, Taiwan, ROC
    • ,
  • Shun-Ping Chang

      Affiliations

    • Center for Medical Genetics, Changhua Christian Children's Hospital, Changhua, Taiwan, ROC
    • ,
  • Yu-Yuan Ke

      Affiliations

    • Department of Pediatrics, Changhua Christian Children's Hospital, Changhua, Taiwan, ROC
    • ,
  • Han-Yao Chiu

      Affiliations

    • Department of Pediatrics, Changhua Christian Children's Hospital, Changhua, Taiwan, ROC
    • ,
  • Lon-Yen Tsao

      Affiliations

    • Department of Pediatrics, Changhua Christian Children's Hospital, Changhua, Taiwan, ROC
    • ,
  • Ming Chen

      Affiliations

    • Center for Medical Genetics, Changhua Christian Children's Hospital, Changhua, Taiwan, ROC
    • Corresponding Author InformationCorresponding author. Center for Medical Genetics, Changhua Christian Hospital, 135 Nan-Hsiao Street, Changhua 500-06, Taiwan

Received 14 January 2008; received in revised form 12 August 2008; accepted 19 September 2008.

Article Outline

Background

Cystic fibrosis (CF) is considered to be a rare disease in Asians. We report two cases of CF in a 5-year-old girl and her newborn brother. They are of mixed parentage: a Taiwanese mother and an Australian father.

Methods

A comprehensive mutational analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene was completed. Literature was reviewed for delta F508 in East Asians.

Results

Two mutation sites were identified in the siblings. The carrier status of their parents and elder brother were also confirmed: heterozygous delta F508 mutation from the father; 13 TG repeats in the IVS8-5T from the mother. An update of delta F508 mutation reported in East Asian patients from various ethnicities is included; most of them were of mixed parentage.

Conclusion

These two cases are the first report of cystic fibrosis associated with a delta F508 mutation in a Taiwanese patient attributable to a mutation most commonly seen in Caucasians. We found that the delta F508 mutation is of western origin. Asian patients are seldom found with this mutation unless they are of mixed parentage. Our findings provide further evidence that different ethnicities have their own set of CFTR mutations.

Key Words:  cystic fibrosis , cystic fibrosis transmembrane conductance regulator gene (CFTR gene) , delta F508 , Taiwanese

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PII: S1875-9572(09)60018-8

doi:10.1016/S1875-9572(09)60018-8

Pediatrics & Neonatology
Volume 49, Issue 6 , Pages 240-244, December 2008

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