Detection of a large heterozygous deletion and a splicing defect in the CFTR transcripts from nasal swab of a Japanese case of cystic fibrosis

Journal of Human Genetics
Miyuki NakakukiHiroshi Ishiguro

Abstract

Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in CFTR (CF transmembrane conductance regulator). Although CF is the most common hereditary disease in Caucasians, it is rare in Asian populations. Common disease-causing mutations of CFTR in Caucasians are rarely identified in Japanese patients with CF. In the present study, CFTR transcripts from nasal swab were analyzed in a Japanese boy, in addition to conventional PCR and direct sequence of all exons, their boundaries and promoter region of the CFTR gene. The boy was diagnosed with CF by chronic respiratory infection and the elevated sweat chloride level. None of the disease-causing mutations of CFTR was detected by the conventional analysis. Cloning and sequence of the CFTR transcripts revealed a heterozygous deletion spanning exons 16, 17a and 17b. The deletion was confirmed by multiplex ligation-dependent probe amplification and the direct sequence of the junction fragment obtained from the genomic DNA by primer walking, which revealed the mutation c.2908+1085_3367+260del7201. We also identified a splicing defect: deletion/skipping of exon 1 in the CFTR transcript from the other allele. The analysis of CFTR transcripts from nasal swab is recommend...Continue Reading

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Citations

Oct 7, 2015·Respirology : Official Journal of the Asian Pacific Society of Respirology·Meenu SinghNeeraj Sharma
Mar 31, 2018·Journal of General and Family Medicine·Yoshitaka TomodaKazutoyo Tanaka
Jun 20, 2015·American Journal of Physiology. Gastrointestinal and Liver Physiology·Shiho KondoHiroshi Ishiguro
Jun 29, 2018·The Journal of Physiological Sciences : JPS·Kanako Wakabayashi-NakaoYoshiro Sohma

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