Literature DB >> 1757966

A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1.

M Schloesser1, S Arleth, U Lenz, R M Bertele, J Reiss.   

Abstract

A cystic fibrosis patient with the genotype G542X/1717-1 (G----A) was identified by DNA sequencing of exon 11 of the CFTR gene. The available molecular and clinical data are presented. This is the first report of a patient with this rare genotype and may serve to improve our understanding of allele interactions.

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Year:  1991        PMID： 1757966      PMCID： PMC1017168          DOI： 10.1136/jmg.28.12.878

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  10 in total

1.  A 3' splice site consensus sequence mutation in the cystic fibrosis gene.

Authors:  H Guillermit; P Fanen; C Ferec
Journal:  Hum Genet       Date:  1990-09       Impact factor: 4.132

2.  Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.

Authors:  G R Cutting; L M Kasch; B J Rosenstein; L C Tsui; H H Kazazian; S E Antonarakis
Journal:  N Engl J Med       Date:  1990-12-13       Impact factor: 91.245

3.  The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).

Authors:  E Kerem; M Corey; B S Kerem; J Rommens; D Markiewicz; H Levison; L C Tsui; P Durie
Journal:  N Engl J Med       Date:  1990-11-29       Impact factor: 91.245

4.  Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.

Authors:  B S Kerem; J Zielenski; D Markiewicz; D Bozon; E Gazit; J Yahav; D Kennedy; J R Riordan; F S Collins; J M Rommens
Journal:  Proc Natl Acad Sci U S A       Date:  1990-11       Impact factor: 11.205

5.  A cystic fibrosis patient homozygous for the nonsense mutation R553X.

Authors:  J Bal; M Stuhrmann; M Schloesser; J Schmidtke; J Reiss
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

6.  A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew.

Authors:  H Cuppens; P Marynen; C De Boeck; F De Baets; E Eggermont; H Van den Berghe; J J Cassiman
Journal:  J Med Genet       Date:  1990-11       Impact factor: 6.318

7.  Distribution patterns of the delta F508 mutation in the CFTR gene of CF-linked marker haplotypes in the German population.

Authors:  A Reis; S Bremer; M Schlösser; M Dueck; I Böhm; J Hundrieser; M Macek; M Stuhrmann; M Wagner; T Dörk
Journal:  Hum Genet       Date:  1990-09       Impact factor: 4.132

8.  Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

Authors:  J R Riordan; J M Rommens; B Kerem; N Alon; R Rozmahel; Z Grzelczak; J Zielenski; S Lok; N Plavsic; J L Chou
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

9.  A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.

Authors:  G R Cutting; L M Kasch; B J Rosenstein; J Zielenski; L C Tsui; S E Antonarakis; H H Kazazian
Journal:  Nature       Date:  1990-07-26       Impact factor: 49.962

10.  Association of less common cystic fibrosis mutations with a mild phenotype.

Authors:  A Curtis; R Nelson; M Porteous; J Burn; S S Bhattacharya
Journal:  J Med Genet       Date:  1991-01       Impact factor: 6.318
  10 in total
  4 in total

1.  A novel 5'-upstream mutation in the factor XII gene is associated with a TaqI restriction site in an Alu repeat in factor XII-deficient patients.

Authors:  S Hofferbert; J Müller; H Köstering; W D von Ohlen; M Schloesser
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

Review 2.  Cystic fibrosis - a multiorgan protein misfolding disease.

Authors:  Douglas Fraser-Pitt; Deborah O'Neil
Journal:  Future Sci OA       Date:  2015-09-01

3.  A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies.

Authors:  Daniel R McHugh; Miarasa S Steele; Dana M Valerio; Alexander Miron; Rachel J Mann; David F LePage; Ronald A Conlon; Calvin U Cotton; Mitchell L Drumm; Craig A Hodges
Journal:  PLoS One       Date:  2018-06-20       Impact factor: 3.240

Review 4.  Precision Medicine Based on CFTR Genotype for People with Cystic Fibrosis.

Authors:  Iram Haq; Maryam Almulhem; Simone Soars; David Poulton; Malcolm Brodlie
Journal:  Pharmgenomics Pers Med       Date:  2022-02-05
  4 in total

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