Genotype-phenotype correlation in three homozygotes and nine compound heterozygotes for the cystic fibrosis mutation 2183AAright-arrowG shows a severe phenotype

Kilinc, MO; Ninis, VN; Tolun, Aslıhan; Estivill, Xavier; Casals, Teresa; Savov, Aleksey; Dağlı, Elif; Karakoç, Fazilet; Demirkol, Mübeccel; Huner, Gülden; Özkınay, Ferda; Demir, Ercan; Seculi, JL; Peña, José A.; Bousoño, Carlos; Ferrer-Calvete, J; Calvo, Carmen; Glover, G.; Kremenski, I

doi:10.1136/jmg.37.4.307

Cited by 6 publications

(2 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The majority of the mutations found (F508del, R347P, D1152H, 2789 1 5G-.A, 711 1 3A-.G, N1303K, R117H, R1162X, S549R(A-.C), 2183AA-.G, G85E, 1717-1G-.A, G542X, and W1282X) have an established pathogenic role (26)(27)(28)(29)(30)(31)(32)(33)(34)(35)(36)(37)(38)(39)(40)(41)(42)(43)(44). The (TG) 12 T 5 and (TG) 12 T 7 variant tracts may act as pathogenic by altering splicing patterns, at least in atypical mono/oligosymptomatic forms of CF (45)(46)(47).…”

Section: Discussionmentioning

confidence: 99%

Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4‐year clinical follow‐up

Narzi¹,

Ferraguti

Stamato

et al. 2007

Clinical Genetics

View full text Add to dashboard Cite

The neonatal screening protocol for cystic fibrosis (CF) is based on a first determination of blood immunoreactive trypsin (IRT1), followed by a first level genetic test that includes the 31 worldwide most common mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene (DNA31), and a second determination of blood immunoreactive trypsin (IRT2). This approach identifies, in addition to affected subjects, a high proportion of newborns with hypertrypsinaemia at birth, in whom only one mutation is identified and who have a negative or borderline sweat test and pancreatic sufficiency. Although it has been suggested that hypertrypsinaemia may be caused by a single CFTR mutation, whether such neonates should be merely considered as healthy carriers remains a matter of debate as hypertrypsinaemia at birth may be a biochemical marker of a CFTR malfunction because of a second mild mutation. We analyzed, by means of an extended sequencing protocol, 32 newborns who tested positive at an IRT1/DNA31/IRT2 screening protocol and in whom only one CFTR mutation was found. The results obtained demonstrate that 62.5% of these newborns were also carrying a second mild CFTR mutation. The high proportion of compound heterozygous subjects, combined with the results of a 4-year follow-up in nine of these subjects all of whom displaying initial CF clinical symptoms, suggest that it may be possible to use the IRT1/DNA31/IRT2 protocol of neonatal screening to identify newborns with atypical forms of CF. In view of these findings, an extended genetic search for subjects with compound heterozygosity and a periodic clinical assessment should be considered.

show abstract

Section: Discussionmentioning

confidence: 99%

Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4‐year clinical follow‐up

Narzi¹,

Ferraguti

Stamato

et al. 2007

Clinical Genetics

View full text Add to dashboard Cite

show abstract

“…However, a case can be made for adding other ethnic/racial-group specific mutations to the basic panel to expand its pan-ethnicity. Examples of such mutations would include: 394delTT (common in Scandanavia) (Schaedel et al, 1999); 2183AA R G (common in Italy, parts of Germany/Austria) (Kilinc et al, 2000); 71115G R A, Q552X (for northern Italy) (Bombieri and Pignatti, 2001); R1158X (in southern Italians) (Castaldo et al, 1999); 3905inst (in the Swiss, Amish, and Acadians) (Hergersberg et al, 1997; http://www.genet.sickkids.on.ca/cftr/rptTable3.html); S549N, Y1092X, and E60X (general U.S. caucasian population) (Heim et al, 2001); and 181111.2kbA R G, 1609delCA, R1066C, and 3272226A R G (in Spain and Portugal) (http://www.genet.sickkids.on.ca/ cftr/rptTable3.html). There are others for which a case can be made for completeness and to increase the carrier detection rate in the United States: 2307insA, A559T, and S1255X (African-Americans) (Macek et al, 1997); M1101K (Hutterites) (Zielinski et al, 1993); 189815G R A in Taiwanese Chinese (Zielinski et al, 1995); 4016insT, L1065P, and G1244E (southern Italians) (Castaldo et al, 1999) (Table 2).…”

mentioning

confidence: 99%

Cystic Fibrosis Carrier Screening: Steps in the Development of a Mutation Panel

Gilbert

2001

Genetic Testing

View full text Add to dashboard Cite

The American College of Obstetricians and Gynecologists (ACOG) has now officially recommended that cystic fibrosis (CF) carrier screening be offered to all Caucasian pregnant couples. The American College of Medical Genetics (ACMG) has officially recommended that CF-carrier screening be performed using a 25-mutation panel. Data is presented to indicate that an expanded pan-ethnic mutation panel, containing at least 47 mutations, would provide significantly greater CF-carrier identification in the ethnically diverse U.S. population.

show abstract

eSensor®A Microarray Technology Based on Electrochemical Detection of Nucleic Acids and Its Application to Cystic Fibrosis Carrier Screening

Reed¹,

Coty²

2009

Microarrays

View full text Add to dashboard Cite

Genotype-phenotype correlation in three homozygotes and nine compound heterozygotes for the cystic fibrosis mutation 2183AAright-arrowG shows a severe phenotype

Cited by 6 publications

References 12 publications

Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4‐year clinical follow‐up

Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4‐year clinical follow‐up

Cystic Fibrosis Carrier Screening: Steps in the Development of a Mutation Panel

eSensor®A Microarray Technology Based on Electrochemical Detection of Nucleic Acids and Its Application to Cystic Fibrosis Carrier Screening

Contact Info

Product

Resources

About