囊性纤维化跨膜传导调节因子突变c.1521_1523delCTT（p.Phe508del）在两名卡塔尔囊性纤维化患者中的首次报告。
First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis.
作者信息
AbdulWahab Atqah, AlNaimi Amal, Habra Basel, Janahi Ibrahim
机构信息
Department of Paediatric Medicine, Hamad Medical Corporation, Doha, Qatar.
出版信息
Qatar Med J. 2021 Jul 26;2021(1):24. doi: 10.5339/qmj.2021.24. eCollection 2021.
Abstract
We report two cases of Qatari children with cystic fibrosis (CF) from different families presenting the homozygous CFTR 1521_1523delCTT (p. Phe508del) mutation with classic CF phenotypes. This gene mutation is considered the second CF mutation identified in Qatar. Herein, we review the frequency and distribution of this mutation in Arab countries.
摘要
我们报告了两例来自不同家庭的患有囊性纤维化（CF）的卡塔尔儿童，他们呈现出纯合的CFTR 1521_1523delCTT（p.Phe508del）突变以及典型的CF表型。这种基因突变被认为是在卡塔尔发现的第二种CF突变。在此，我们回顾了该突变在阿拉伯国家的频率和分布情况。
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