Novel Mutation (I1023R) in Two Taiwanese Siblings of Cystic Fibrosis

囊性纖維化新突變點(I1023R)的發現：兩名台灣兄弟病例報告

何宇苓(Yu-Ling Ho) ； 吳宛昭(Wan-Jao Wu) ； 黃健燊(Kin-Sun Wong) ； 黃崇濱(Chung-Bin Huang) ； 牛震廣(Chen-Kuang Niu) ； 徐世達(Shyh-Dar Shyur) ； 黃立心(Li-Hsin Huang) ； 吳柏蒼(Po-Chang Wu)

《中華民國兒童胸腔醫學會雜誌》 5卷3期 (2007/05) Pp. 152-158

https://doi.org/10.6322/JPRD.200705_5(3).0008

摘要

Cystic fibrosis (CF) is an autosomal recessive disorder that is rarely diagnosed definitely in Asians. Less than ten cases of Taiwanese CF with certain gene mutations were published up till now. We report two cases of CF that involved two adolescent Taiwanese siblings. They were identified by direct DNA sequence analysis and both were found to have the same two mutation sites. One is 1898+5G-＞T which may well explain the pancreatic sufficient phenotype several Taiwanese with CF have in common. The other is a novel mutation I1023R. Both of the siblings presented with airway obstruction symptoms, recurrent infections with Pseudomonas aeruginosa, chronic sinusitis, and bronchiectasis. They are accepting treatment with inhaled Tobramycin 300mg twice daily currently.

關鍵字

新突變點 ； 囊性纖維化 ； 台灣

並列摘要

Cystic fibrosis (CF) is an autosomal recessive disorder that is rarely diagnosed definitely in Asians. Less than ten cases of Taiwanese CF with certain gene mutations were published up till now. We report two cases of CF that involved two adolescent Taiwanese siblings. They were identified by direct DNA sequence analysis and both were found to have the same two mutation sites. One is 1898+5G-＞T which may well explain the pancreatic sufficient phenotype several Taiwanese with CF have in common. The other is a novel mutation I1023R. Both of the siblings presented with airway obstruction symptoms, recurrent infections with Pseudomonas aeruginosa, chronic sinusitis, and bronchiectasis. They are accepting treatment with inhaled Tobramycin 300mg twice daily currently.

並列關鍵字

novel mutation ； cystic fibrosis ； Taiwan