ABCMdb

PMID: 10605524

Banjar H, Kambouris M, Meyer BF, al-Mehaidib A, Mogarri I
Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia.
Ann Trop Paediatr. 1999 Mar;19(1):69-73., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCC7 p.Arg553* ABCC7 p.Ser549Arg ABCC7 p.Ile1234Val ABCC7 p.His139Leu Pancreatic insuf® ciency (PI) was found in the following mutations: 1548delG in exon 10 (15%) which occurred mainly in native Saudi patients in the central province; 3120 1 1G ® A in intron 16 (10%) and H139L in exon 4 (7%), found mainly in native Saudis from the eastern province; D F508 mutation (13%) which occurred mainly in expatriates of Middle Eastern origin from different provinces; L117X in exon 19 (2%); G115X in exon 4 (2%); 7111 1G ® A in intron 5 (2%); N 1303K in exon 21(2%) and 425del42 in exon 4 (1%); I1234V in exon 19 (13%) with a predominance of nasal polyps and a variable degree of PI and lung disease; R553X in exon 11 (1%), with electrolyte imbalance; and S549R in 11 (2%) with pancreatic suf® ciency and minimal pulmonary disease. Login to comment 29 ABCC7 p.His139Leu of families/ Total % Position Genotype a group Prov alleles Frequency Phenotype Exon 4 425del42 1 Sa W 1 1 PI, PU, EL Exon 4 G115X 1 Sa W 2 2 PI, PU Exon 4 H139L 2 Sa E 4 5 PI, PU 1 Sa W 2 2 3 Total 6 Total 7 Total Intron 5 7111 1G ® A 1 Sa S 2 2 PI, PU Exon 10 1548delG/1548del G 4/1/1 Sa C/N/S 8/2/2 13 1548del G/N1303K* 1 Sa E 1 1 1548del G/? Login to comment 30 ABCC7 p.Ser549Arg 1 Sa E 1 1 8 Total 14 Total 15 Total Exon 19 L1177X 1 NonSa W 2 2 PI, PU Exon 10 D F508 2 Sa C 4 4 PI, PU 1/1/1 NonSa W/E/C 2/2/2 2/2/2 5 Total 10 Total 10% Total Exon 11 S549R 1 Sa E 2 2 PS Exon 11 553X/31201 1G ® A* 1 NonSa W 1 1 EL Intron 16 31201 1G ® A 3 Sa E 6 7 PI, PU 31201 1G ® A/? Login to comment 31 ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Ile1234Val 1 Sa S 1 1 N1303K/3120 1 1G® A* 1 NonSa W 1 1 R553X/31201 1G ® A* 1 NonSa W 1 1 7 Total 9 Total 9 Total Exon 19 I1234V 4/1/1 Sa C/W/S 12 13 NP Exon 21 N1303K/3120 1 1G® A* 1 NonSa W 1 1 N1303K/1548delG* 1 Sa E 1 1 2 Total 2 Total 2 Total a All mutations are homozygous except if otherwise indicated; ? Login to comment 40 ABCC7 p.Asn1303Lys ABCC7 p.His139Leu CFTR mutations identi® ed 4± 11 Severe pancreatic insuf® ciency and lung disease were found in the following CFTR mutations: 1548delG was found in eight families (15% of total alleles), all native Saudis, four families from Central Province; D F508 was found in ® ve families (10%), three of non-Saudi origin from different provinces; 3120 1 1G ® A was found in seven families (9%), three being native Saudi from Eastern Province; H139L was found in three (7%) native Saudi families mainly from Eastern Province; N1303K occurred in two (2%) families and G115X in one family, 425del42, L1177X and 711 1 1G ® A were each found in one family. Login to comment 41 ABCC7 p.Ile1234Val I1234V was found in six (13%) native Saudi families, four of them from Central Province. Login to comment 43 ABCC7 p.Arg553* R553X/3120 1 1G ® A was found in one family with a predominance of electrolyte imbalance. Login to comment 44 ABCC7 p.Ser549Arg S549R was found in one family with pancreatic suf® ciency (PS) and minimal chest symptoms. Login to comment 50 ABCC7 p.Ile1234Val ABCC7 p.His139Leu The most common Saudi mutations are 1548delG, which constitutes 15% of the total alleles, and I1234V (13%), coming mainly from the Central Province, while 1G ® A (10%) and H139L (7%) were mainly from Eastern Province. Login to comment