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 ,Revised 12 August 2008 ,Accepted 19 September 2008.

References 

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  2. Yamashiro Y , Shimizu T , Oguchi S , Shioya T , Nagata S , Ohtsuka Y . The estimated incidence of cystic fibrosis in Japan . J Pediatr Gastroenterol Nutr . 1997;24:544–547
  3. Davis PB . Cystic fibrosis . Pediatr Rev . 2001;22:257–264
  4. Hojo S , Fujita J , Miyawaki H , Obayashi Y , Takahara J , Bartholomew DW . Severe cystic fibrosis associated with a DF508/R347H +D979A compound heterozygous genotype . Clin Genet . 1998;53:50–53
  5. Macek M , Hamosh A , Kiesewetter S , McIntosh I , Rosentein BJ , Cutting GR . Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome . Hum Mutat . 1992;6:501–502
  6. Macek M , Mercier B , Mackova A , et al.   Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene . Hum Mutat . 1997;9:136–147
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  8. Wu CC , Alper OM , Lu JF , et al.   Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens . Hum Reprod . 2005;20:2470–2475
  9. Fujiki K , Ishiguro H , Ko SBH , et al.   Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis . J Med Genet . 2004;41:55–60
  10. Wong LJC , Wang J , Zhang YH , et al.   Improved detection of CFTR mutations in Southern California Hispanic CF patients . Hum Mutat . 2001;18:296–307
  11. Wong LJC , Alper OM . Detection of CFTR mutations using temporal temperature gradient gel electrophoresis . Electrophoresis . 2004;25:2593–2601
  12. Cystic Fibrosis Mutation DataBase . http://www.genet.sickkids.on.ca/cftr/ [Data accessed: May 1, 2007]
  13. Wagner JA , Vassilakis A , Yee K , et al.   Two novel mutations in a cystic fibrosis patient of Chinese origin . Hum Genet . 1999;104:511–515
  14. Mei-Zahav M , Durie P , Zielenski J , et al.   The prevalence and clinical characteristics of cystic fibrosis in South Asian Canadian immigrants . Arch Dis Child . 2005;90:675–679
  15. Callaghan BD , Hoo AF , Dinwiddie R , et al.   Growth and lung function in Asian patients with cystic fibrosis . Arch Dis Child . 2005;90:1029–1032
  16. Chen HJ , Lin SP , Lee HC , et al.   Cystic fibrosis with homozygous R553X mutation in a Taiwanese child . J Hum Genet . 2005;50:674–678
  17. Groman JD , Hefferon TW , Casals T , et al.   Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign . Am J Hum Genet . 2004;74:176–179
  18. Sun W , Anderson B , Redman J , et al.   CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype . Genet Med . 2006;8:339–345

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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