Abstract
Cystic fibrosis (CF) is one of the most common autosomal recessive disorders among Caucasians of Northern European descent but is uncommon in the Chinese population. Objectives. To elucidate the mutation in the novel compound heterozygous CFTR causing CF in Chinese family. Materials and Methods. Clinical samples were obtained from a Chinese family, the brother and sister with recurrent airway infections, hypoxemia and obstructive ventilatory impairment, sinusitis, clubbed fingers, salty sweat, and nasal polyposis. We performed whole-exome sequencing on the family and validated all potential variants by Sanger sequencing. Results. Next-generation sequencing showed a novel compound heterozygous CFTR mutation (c.400 A > G p.Arg134Gly and c.3484 C > T p.Arg1162∗) which resulted in CF in the family. Conclusions. As this mutation is consistent with the observed clinical manifestations of CF and no other mutations were detected after scanning the gene sequence, we suggest that their CF phenotypes are caused by the compound heterozygous mutation, c.400 A > G p.Arg134Gly and c.3484 C > T p.Arg1162∗. As c.400 A > G is not currently listed in the Cystic Fibrosis Mutation Database, this information, regarding the CF-causing mutations in two Chinese patients, is of interest.
Highlights
Cystic fibrosis (CF) is one of the most common autosomal recessive disorders among Caucasians of Northern European descent, but it is uncommon in the Chinese population
E genomic DNA sequencing indicated that the brother and sister had the same mutations in the CFTR gene
CF is an autosomal recessive disorder resulting from mutations in the CFTR gene that resulted in deficient or dysfunctional CFTR protein
Summary
Cystic fibrosis (CF) is one of the most common autosomal recessive disorders among Caucasians of Northern European descent, but it is uncommon in the Chinese population. It is characterized by nasal polyposis, chronic obstructive pulmonary disease, and congenital bilateral absence of the vas deferens (CBAVD). CF is an autosomal recessive genetic disease associated with a 250,000 base-pair region on chromosome 7q encoding cystic fibrosis transmembrane conductance regulator (CFTR). 50% of Caucasian CF patients are homozygous for the ΔF508 mutation, which results in a complete loss of CFTR function and the classic, severe manifestations of the disease. We elucidated the causative role of this novel compound heterozygous mutation in the pathogenesis of a severe form of CF along with a review of previously reported cases
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