PMID: 9429141Jan 16, 1998Paper

Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis

Journal of Medical Genetics
E H El-HarithJ Schmidtke

Abstract

More than 600 different CFTR (cystic fibrosis transmembrane conductance regulator) gene mutations have been identified so far that are considered to cause the fatal genetic disorder cystic fibrosis (CF). We have investigated 15 Arab children from 12 families, who were diagnosed as having CF, for mutations in the coding region and in the flanking intron sequences of the CFTR gene. Six different CFTR mutations were identified including two novel mutations, 1548delG in exon 10 and 406-2A-->G in intron 3. Prominent mutations were the splice mutation 3120 + 1G-->A (intron 16) followed by N1303K (exon 21) and 1548delG (exon 10). Most CF children were homozygotes who presented with a severe form of the disease including failure to thrive, recurrent chest infections, particularly with Pseudomonas aeruginosa, and frequent hospital admissions. Identification of the CFTR mutations facilitates molecular investigation of the disease and better understanding of its pathophysiology in Arab children, among whom CF is probably an underdiagnosed disease.

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Citations

Feb 13, 2001·Clinical Genetics·A GoldmanM Ramsay
Jul 25, 2009·Journal of Tropical Pediatrics·Léon Mutesa, Vincent Bours
Apr 18, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sainan WeiKristin G Monaghan
Feb 17, 2015·Journal of Advanced Research·Mona M El-FalakiMona M El-Attar
Oct 19, 2007·Wiener klinische Wochenschrift·Heinz ZollerWolfgang Vogel
Sep 29, 2007·Human Genetics·Irene Gallego Romero, Carole Ober
Nov 20, 2002·American Journal of Medical Genetics·Mehmet Okyay KilinçAslihan Tolun
Jan 27, 2006·The Journal of Molecular Diagnostics : JMD·Elahe ElahiYvonne R Thorstenson
Oct 7, 2015·Respirology : Official Journal of the Asian Pacific Society of Respirology·Meenu SinghNeeraj Sharma
Apr 3, 2002·Annals of Tropical Paediatrics·A Abdul WahabM Kambouris
Aug 28, 2010·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Chantal FarraFaiza Cabet
May 6, 2008·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Chantal FarraJohnny Awwad
Jul 14, 2006·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Maggie L NaguibSamya Z Nasr
Nov 13, 2018·Respirology : Official Journal of the Asian Pacific Society of Respirology·Duaa Al-SadeqHatem Zayed
Oct 31, 2007·Pediatric Pulmonology·S K KabraS Shastri
Oct 5, 2019·Multidisciplinary Respiratory Medicine·Samer HammoudehIbrahim A Janahi
Feb 27, 2007·Annals of Saudi Medicine·K P Dawson, P M Frossard
Mar 16, 2021·International Journal of Pediatrics & Adolescent Medicine·Hanaa BanjarNabil Moghrabi

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