Frequency of deletion 508 among Irish cystic fibrosis patients

Arce, M A De; Mulherin, D.; McWilliam, Peter; Lawler, M.; Fitzgerald, M; Humphries, Peter; Lawler, Mark

doi:10.1007/bf02428278

Cited by 5 publications

(4 citation statements)

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“…There are only a few reports available describing frequencies of ABCC7 mutations in the Irish population. These reports indicate that ΔF508 is present in 72% and 76% of CF chromosomes, respectively (11, 12). We screened our sample cohort for eight mutations and found ΔF508 at a frequency of 71%.…”

Section: Discussionmentioning

confidence: 98%

“…In more ethnically diverse countries, regional data on the spectrum of CF mutations are crucial to develop more accurate and less expensive molecular screening strategies for CF (16). There are no reports of the E60X, P67L, G85E, IVS8‐5T, V520F or 1898 + 1G > A mutations in previously published CF mutation frequency reports for the Republic of Ireland (11, 12). The E60X mutation has been reported in Northern Ireland (0.7%), with no V520F or P67L alleles being detected (13).…”

Section: Discussionmentioning

confidence: 99%

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Cystic fibrosis mutation frequencies in an Irish population

Devaney¹,

Glennon²,

Farrell³

et al. 2003

Clinical Genetics

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The incidence of cystic fibrosis (CF) at birth in Ireland is 1/1461. Neonate CF genetic testing is not routinely performed in Ireland. Currently, screening is only carried out where there is clinical evidence or a family history to suggest disease. Here we report the frequencies of common CF mutations occurring in an Irish population composed of samples collected from western, mid-western and southern regions of Ireland. Rarer CF mutations were also identified in a selected number of CF patients. In addition, a number of polymorphisms were identified, some of which are reported to be functionally and phenotypically important.

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Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Cystic fibrosis mutation frequencies in an Irish population

Devaney¹,

Glennon²,

Farrell³

et al. 2003

Clinical Genetics

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“…About 1 in 2,000 live births is affected and 5% of the general population carry the CF gene [1,2], Cases and carriers occur less frequently in other ethnic groups. The main clinical fea tures are chronic lung sepsis, pancreatic insuf ficiency leading to nutritional failure, and he patobiliary disease.…”

Section: Introductionmentioning

confidence: 99%

“…In Scot land and Ireland. d508 has a prevalence of 75% [2,9], compared to under 50% in Spain and Italy [10]. The mutations lead to defec tive CFTR causing altered extracellular chlo ride homeostasis [7.…”

Section: Introductionmentioning

confidence: 99%

Cystic Fibrosis in Adolescents and Adults

Mulherin¹,

FitzGerald²

1992

Dig Dis

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Cystic fibrosis (CF) is the commonest, fatal, autosomal recessive disorder and is associated with lung sepsis, pancreatic failure and elevated sweat electrolytes. The CF gene on chromosome 7 encodes a protein identified as CF transmembrane conductance regulator (CFTR) which regulates chloride ion transport in epithelial cell membranes. Almost 100 mutations have been identified in this gene which cause defective chloride-channel control. Recently, this abnormality has been reversed in affected CF cells in vitro by retrovirus-mediated transfer of a normal gene. Fifty years ago, most cases died in childhood, but now up to 80% reach adulthood. Chronic lung sepsis is the principal cause of death, and intensive antibiotic therapy with chest physiotherapy is used to control this. Advanced lung disease can be successfully treated by heart-lung transplantation. Nebulised recombinant DNase and antineutrophil elastase agents such as alpha-1-antitrypsin and secretory leucoprotease inhibitor are potentially promising new therapies. Pancreatic insufficiency is managed by high-calorie diets and enteric coated enzyme supplements. Other prominent gastrointestinal complications include meconium ileus equivalent, biliary cirrhosis and cholelithiasis. Specially dedicated CF centres have led to improved survival rates and allow experienced staff to treat the many complications of CF while promoting research in this multisystem disorder.

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Aminoglycoside induced ototoxicity in patients with cystic fibrosis

et al. 1991

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The improved survival of cystic fibrosis (CF) patients is partly due to intensive treatment for their chronic infections. Treatment usually includes intravenous and nebulised aminoglycoside antibiotics and they receive a large cumulative dose of these antibiotics over their lifetime. There is little information in the literature on the prevalence of ototoxicity due to aminoglycoside in these patients. We performed pure tone audiometry on 43 CF patients aged 14-42 years. Seven (16%) had bilateral sensorineural hearing loss (SNHL) for high frequency sounds, consistent with aminoglycoside induced ototoxicity. However, only 2 of these patients had documented toxic serum levels in the past. The identification of bilateral SNHL in one in six adult CF patients is a cause for concern. It may be that the high cumulative dose of aminoglycosides received by these patients may be causing inner ear injury in the absence of specific episodes of toxic serum levels.

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Frequency of deletion 508 among Irish cystic fibrosis patients

Cited by 5 publications

References 0 publications

Cystic fibrosis mutation frequencies in an Irish population

Cystic fibrosis mutation frequencies in an Irish population

Cystic Fibrosis in Adolescents and Adults

Aminoglycoside induced ototoxicity in patients with cystic fibrosis

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