Hafiz Sumaiya, Al Qassimi Sarah, Isse Said, Wahla Ali Saeed, El-Kaissi Mahmoud, Uzbeck Mateen, Shafiq Irfan
Cleveland Clinic, Abu Dhabi, United Arab Emirates.
Eur J Case Rep Intern Med. 2023 Jan 17;10(1):003728. doi: 10.12890/2023_003728. eCollection 2023.
Cystic fibrosis (CF) is a common autosomal recessive disorder which is mainly found in Caucasians but has also been reported in Asian populations. CF is primarily caused by mutations in the CFTR gene which regulates the transport of chloride ions across the cell membrane. We describe the cases of two siblings with CF diagnosed with the rare missense mutation c.80G>T, which has only been referenced once in the literature and shows a possible association with classical form of CF.
c.80G>T is a very rare CFTR missense mutation which has not been known to be a disease-causing alteration.The mutation causes an amino acid switch from glycine to valine at position 27 in exon 2, resulting in the production of defective CFTR protein.In the homozygous state, c.80G>T seems to be associated with the classic CF phenotype.
囊性纤维化（CF）是一种常见的常染色体隐性疾病，主要见于白种人，但在亚洲人群中也有报道。CF主要由CFTR基因突变引起，该基因调节氯离子跨细胞膜的转运。我们描述了两名患有CF的兄弟姐妹的病例，他们被诊断出携带罕见的错义突变c.80G>T，该突变在文献中仅被引用过一次，且显示出与经典型CF可能存在关联。
c.80G>T是一种非常罕见的CFTR错义突变，此前未知其为致病改变。该突变导致外显子2中第27位氨基酸由甘氨酸转换为缬氨酸，从而产生有缺陷的CFTR蛋白。在纯合状态下，c.80G>T似乎与经典CF表型相关。
