Skipping of exon 12 as a consequence of a point mutation (1898 + 5G-->T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family

Clinical Genetics
J ZielenskiL C Tsui

Abstract

A point mutation (1898 + 5G-->T) located five base pairs downstream from the donor splice site in intron 12 of the CFTR gene has been identified in a consanguineous CF patient of Chinese origin. To determine if this nucleotide substitution could affect mRNA splicing, PCR analysis was performed with RNA isolated from the lymphoblastoid cell line of the mother of the deceased patient. While exon 12-minus transcript was detected in this sample, it was also found in individuals without 1898 + 5G-->T, albeit in a smaller proportion. Using a sequence polymorphism associated with each of the two alleles in the mother, however, we showed that mutant transcript was almost exclusively produced by the 1898 + 5G-->T allele. Skipping of exon 12 would result in the deletion of 29 amino acids from the first nucleotide binding domain of CFTR, rendering the protein non-functional. The possibility of a low level (< or = 2.5%) of normal transcript from the mutant allele cannot be excluded and it may explain the pancreatic sufficient phenotype of the patient. The 1898 + 5G-->T mutation was found in two other CF patients of Chinese origin, but it was not detected in 192 CF chromosomes of Caucasian origin and 30 other chromosomes from Chinese indivi...Continue Reading

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Citations

Jul 2, 2003·American Journal of Medical Genetics. Part a·Lee-Jun C WongShin-Yu Lo
Feb 12, 2009·Respirology : Official Journal of the Asian Pacific Society of Respirology·Hsao-Hsun HsuYung-Chie Lee
Oct 17, 2015·The Clinical Respiratory Journal·Yingjun XieWen Tang
Jan 25, 2017·Molecular Genetics & Genomic Medicine·Gordon K C LeungSo-Lun Lee
Nov 12, 2005·Journal of Human Genetics·Hui-Ju ChenChih-Kuang Chuang
Jun 14, 2017·Pediatric Pulmonology·Juan XuHao Zhang
Mar 8, 2019·Frontiers in Pediatrics·Haiyan LiHailin Zhang
Apr 16, 2016·Human Genome Variation·Xinlun TianXue Zhang
Jan 13, 2015·Respirology : Official Journal of the Asian Pacific Society of Respirology·Yaping LiuXue Zhang
Oct 8, 2004·Pharmacogenomics·Federica SangiuoloGiuseppe Novelli

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