caa a22 4500 475786777 CHVBK 20180406123700.0 cr unu---uuuuu 170329e20000401xx s 000 0 eng 10.1007/s004310051277 doi (NATIONALLICENCE)springer-10.1007/s004310051277 Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations [Elektronische Daten] [M. Kambouris, H. Banjar, I. Moggari, H. Nazer, M. Al-Hamed, B. F. Meyer] The cystic fibrosis transmembrane regulator (CFTR) gene in Arab patients with cystic fibrosis (CF) (sweat chloride >60 mmol/l) from 61 unrelated families was screened for mutations in exons 3, 4, 5, 7, 10, 11, 16 and 19 and for mutations W1282X, N1303K and 3849 + 10kbC → T. Eight novel mutations were identified. These are: in exon 4: a) 425del42 (an in-frame 42 bp deletion that removes 14 amino acids and causes Gln98 → His at the point of deletion), b) 475G → T (Glu115 → Stop) and c) 548A → T (His139 → Leu); in intron 5, 711 + 1G → A (splice site mutation); in exon 10, 1548delG (deletion of a "G” nucleotide causing a frameshift mutation that alters the amino acid sequence at residue 473 and results in translation termination at residue 526); in exon 11, a) 1729T → C (Ph533E → Leu) and b) 1811 + 2 (splice site mutation) and finally in exon 19, 3361A → T (Lys1177 → Stop). All mutations were detected by heteroduplex analysis and identified by sequencing. Of more than 850 known CFTR mutations, only 9 were encountered. The comparative frequencies of the most common mutations are: 1548delG> I123V=ΔF508=3120 + 1G → A > H139L. Screening for these five mutations identifies 60% of the CF alleles in Arab populations. The novel mutation 1548delG is the most frequent (17%) among Arabs. Conclusion Novel Arab-specific mutations were identified in the CFTR gene underlying cystic fibrosis. As a result of this study, the CFTR mutation detection rate among Arabs with cystic fibrosis is now comparable to that of other populations. Springer-Verlag Berlin Heidelberg, 2000 Key words Cystic fibrosis transmembrane regulator nationallicence Arab population nationallicence Cystic fibrosis nationallicence Mutations nationallicence Kambouris M. King Faisal Specialist Hospital & Research Centre, Riyadh 11211, Saudi Arabia, SA aut Banjar H. King Faisal Specialist Hospital & Research Centre, Riyadh 11211, Saudi Arabia, SA aut Moggari I. King Faisal Specialist Hospital & Research Centre, Riyadh 11211, Saudi Arabia, SA aut Nazer H. King Faisal Specialist Hospital & Research Centre, Riyadh 11211, Saudi Arabia, SA aut Al-Hamed M. King Faisal Specialist Hospital & Research Centre, Riyadh 11211, Saudi Arabia, SA aut Meyer B. F. King Faisal Specialist Hospital & Research Centre, Riyadh 11211, Saudi Arabia, SA aut https://doi.org/10.1007/s004310051277 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s004310051277 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kambouris M. King Faisal Specialist Hospital & Research Centre, Riyadh 11211, Saudi Arabia, SA aut NATIONALLICENCE 700 1- Banjar H. King Faisal Specialist Hospital & Research Centre, Riyadh 11211, Saudi Arabia, SA aut NATIONALLICENCE 700 1- Moggari I. King Faisal Specialist Hospital & Research Centre, Riyadh 11211, Saudi Arabia, SA aut NATIONALLICENCE 700 1- Nazer H. King Faisal Specialist Hospital & Research Centre, Riyadh 11211, Saudi Arabia, SA aut NATIONALLICENCE 700 1- Al-Hamed M. King Faisal Specialist Hospital & Research Centre, Riyadh 11211, Saudi Arabia, SA aut NATIONALLICENCE 700 1- Meyer B. F. King Faisal Specialist Hospital & Research Centre, Riyadh 11211, Saudi Arabia, SA aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer