Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.
PMID 9429141 | PMCID PMC1051150 | DOI 10.1136/jmg.34.12.996 · Journal of medical genetics · 1997 · View on PubMed ↗
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.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CFTR | “Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.” | 0.98 | hgnc_dict_v1 |
| phenotype | cystic fibrosis | “Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis. 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.” | 0.95 | saudi_context_rules_v1 |
| variant | N1303K | “Prominent mutations were the splice mutation 3120 + 1G-->A (intron 16) followed by N1303K (exon 21) and 1548delG (exon 10).” | 0.82 | literature_variant_regex_v2 |