ABCMdb

PMID: 12630722

Wahab AA
Cystic fibrosis mutation I1234V in a Qatari lady.
J Trop Pediatr. 2003 Feb;49(1):54-5., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCC7 p.Ile1234Val However, a wide range of severity is seen, with case reports documenting affected individuals in their sixth and seventh decades.3,4 Similarly, differences are seen in the rate at which respiratory function declines.5 We describe the phenotype of a multiparous Qatari lady with late CF diagnosis carrying a pathogenic mutation I1234V causing CF in both CFTR alleles which, to our knowledge, is the oldest case published. Login to comment 17 ABCC7 p.Ile1234Val Her genotype showed a homozygous I1234V mutation in exon 19 in both alleles of the CFTR gene. Login to comment 22 ABCC7 p.Ile1234Val First, CF was suspected based on the patient`s clinical history of recurrent chest infections with Case Reports Cystic Fibrosis Mutation I1234V in a Qatari Lady by A. Abdul Wahab Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar Summary We describe a late diagnosis of cystic fibrosis (CF) in a multiparous Qatari lady, in whom the main presenting symptoms were those of chronic lung disease. Login to comment 23 ABCC7 p.Ile1234Val Genetic analysis showed that the patient has a homozygous mutation I1234V in the cystic fibrosis transmembrane conductance regulator gene. Login to comment 28 ABCC7 p.Ile1234Val Third, the case draws attention to variable presentation of CF mutation I1234V of the CFTR gene. Login to comment 29 ABCC7 p.Ile1234Val CF mutation I1234V is a missense mutation, replacing adenine with guanine at the nucleotide 3832 of CFTR gene in exon 19 and this results in the replacement of an isoleucine by a valine at codon 1234. Login to comment 30 ABCC7 p.Ile1234Val CF mutation I1234V was first described in the south of France9 in 1992 in a 12-year-old carrying a ∆ F508 allele on the maternally inherited CF chromosome who presented only with severe pulmonary involvement. Login to comment 31 ABCC7 p.Ile1234Val Another study by El-Hartih, et al.,10 reported homozygous I1234V mutation in two sisters from an Arab tribe who presented with failure to thrive and recurrent diarrhoea. Login to comment 33 ABCC7 p.Ile1234Val A recent study from our institution reported homozygous I1234V mutation in 29 subjects (17 families) belonging to the same tribe with ages ranging from 8 months to 21 years. Login to comment 34 ABCC7 p.Ile1234Val They presented with a variable degree of pulmonary disease, pancreatic insufficiency and electrolyte imbalance.11 In conclusion, CF mutation I1234V has variable age presentation from early infancy to adulthood with variable clinical presentation. Login to comment