Phenotype and Genotype of Two Taiwanese Cystic Fibrosis Siblings and a Survey of Delta F508 in East Asians
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 condu...
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| Format: | Article |
| Language: | English |
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Elsevier
2008-12-01
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| Series: | Pediatrics and Neonatology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1875957209600188 |
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| author | Chao-Jen Lin Shun-Ping Chang Yu-Yuan Ke Han-Yao Chiu Lon-Yen Tsao Ming Chen |
| author_facet | Chao-Jen Lin Shun-Ping Chang Yu-Yuan Ke Han-Yao Chiu Lon-Yen Tsao Ming Chen |
| author_sort | Chao-Jen Lin |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-79dd66ea83ed48eb93454f565e6bcedb |
| institution | OA Journals |
| issn | 1875-9572 |
| language | English |
| publishDate | 2008-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Pediatrics and Neonatology |
| spelling | doaj-art-79dd66ea83ed48eb93454f565e6bcedb2025-08-20T02:00:41ZengElsevierPediatrics and Neonatology1875-95722008-12-0149624024410.1016/S1875-9572(09)60018-8Phenotype and Genotype of Two Taiwanese Cystic Fibrosis Siblings and a Survey of Delta F508 in East AsiansChao-Jen Lin0Shun-Ping Chang1Yu-Yuan Ke2Han-Yao Chiu3Lon-Yen Tsao4Ming Chen5Division of Pediatric Infectious Diseases, Changhua Christian Children's Hospital, Changhua, Taiwan, ROCCenter for Medical Genetics, Changhua Christian Children's Hospital, Changhua, Taiwan, ROCDepartment of Pediatrics, Changhua Christian Children's Hospital, Changhua, Taiwan, ROCDepartment of Pediatrics, Changhua Christian Children's Hospital, Changhua, Taiwan, ROCDepartment of Pediatrics, Changhua Christian Children's Hospital, Changhua, Taiwan, ROCCenter for Medical Genetics, Changhua Christian Children's Hospital, Changhua, Taiwan, ROCCystic 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.http://www.sciencedirect.com/science/article/pii/S1875957209600188cystic fibrosiscystic fibrosis transmembrane conductance regulator gene (CFTR gene)delta F508Taiwanese |
| spellingShingle | Chao-Jen Lin Shun-Ping Chang Yu-Yuan Ke Han-Yao Chiu Lon-Yen Tsao Ming Chen Phenotype and Genotype of Two Taiwanese Cystic Fibrosis Siblings and a Survey of Delta F508 in East Asians Pediatrics and Neonatology cystic fibrosis cystic fibrosis transmembrane conductance regulator gene (CFTR gene) delta F508 Taiwanese |
| title | Phenotype and Genotype of Two Taiwanese Cystic Fibrosis Siblings and a Survey of Delta F508 in East Asians |
| title_full | Phenotype and Genotype of Two Taiwanese Cystic Fibrosis Siblings and a Survey of Delta F508 in East Asians |
| title_fullStr | Phenotype and Genotype of Two Taiwanese Cystic Fibrosis Siblings and a Survey of Delta F508 in East Asians |
| title_full_unstemmed | Phenotype and Genotype of Two Taiwanese Cystic Fibrosis Siblings and a Survey of Delta F508 in East Asians |
| title_short | Phenotype and Genotype of Two Taiwanese Cystic Fibrosis Siblings and a Survey of Delta F508 in East Asians |
| title_sort | phenotype and genotype of two taiwanese cystic fibrosis siblings and a survey of delta f508 in east asians |
| topic | cystic fibrosis cystic fibrosis transmembrane conductance regulator gene (CFTR gene) delta F508 Taiwanese |
| url | http://www.sciencedirect.com/science/article/pii/S1875957209600188 |
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