CF diagnostic challenges: sweat test and CFTR gene mutation testing results

Cystic fibrosis (CF) is a genetic disease caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that affects multisystems in the body, particularly the lungs and digestive system. We report a case of an Omani newborn who presented with meconium ileus and high suspicion of CF. Thus, full CFTR gene sequencing was performed, which revealed a homozygous unreported C.4242+1G>C novel gene mutation. Both parents were found to be heterozygous for this mutation. This case sheds light on the importance of the extensive genetic testing of typical CF cases in the absence of family history or during neonatal presentations, especially when the sweat test cannot be performed and the diagnosis can be challenging.

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Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: report of a large European external quality assessment

European Journal of Human Genetics ◽

10.1038/sj.ejhg.5200195 ◽

1998 ◽

Vol 6 (2) ◽

pp. 165-175 ◽

Cited By ~ 34

Author(s):

E Dequeker ◽

J-J Cassiman

Keyword(s):

Quality Assessment ◽

Gene Mutation ◽

External Quality Assessment ◽

Mutation Testing ◽

Cftr Gene ◽

Testing Methods ◽

External Quality

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Pancreatic Mass in a Young CFTR Carrier With a Heterozygous p.R117H CFTR Gene Mutation and Homozygous 7T

Pancreas ◽

10.1097/mpa.0000000000000244 ◽

2015 ◽

Vol 44 (2) ◽

pp. 343-345

Author(s):

Thomas Hanna ◽

Zainab Abdul-Rahman ◽

William Greenhalf ◽

Eithne Costello ◽

John P. Neoptolemos

Keyword(s):

Gene Mutation ◽

Cftr Gene ◽

Pancreatic Mass

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Gene Mutation in MicroRNA Target Sites of CFTR Gene: A Novel Pathogenetic Mechanism in Cystic Fibrosis?

PLoS ONE ◽

10.1371/journal.pone.0060448 ◽

2013 ◽

Vol 8 (3) ◽

pp. e60448 ◽

Cited By ~ 53

Author(s):

Felice Amato ◽

Manuela Seia ◽

Sonia Giordano ◽

Ausilia Elce ◽

Federica Zarrilli ◽

...

Keyword(s):

Cystic Fibrosis ◽

Gene Mutation ◽

Cftr Gene ◽

Microrna Target ◽

Pathogenetic Mechanism ◽

Target Sites

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Newborn cystic fibrosis screening in southeastern Mexico: Birth prevalence and novel CFTR gene variants

Journal of Medical Screening ◽

10.1177/0969141317722808 ◽

2017 ◽

Vol 25 (3) ◽

pp. 119-125 ◽

Cited By ~ 1

Author(s):

Isabel Ibarra-González ◽

Felix-Julián Campos-Garcia ◽

Luz del Alba Herrera-Pérez ◽

Patricia Martínez-Cruz ◽

Claudia-Margarita Moreno-Graciano ◽

...

Keyword(s):

Cystic Fibrosis ◽

Screening Program ◽

Cftr Gene ◽

Sweat Test ◽

Gene Variants ◽

Transmembrane Conductance Regulator ◽

Transmembrane Conductance ◽

Birth Prevalence ◽

Pathogenic Variants ◽

Immunoreactive Trypsinogen

Objective To use the results of the first five years of a cystic fibrosis newborn screening program to estimate the cystic fibrosis birth prevalence and spectrum of cystic fibrosis transmembrane conductance regulator ( CFTR) gene variants in Yucatan, Mexico. Methods Screening was performed from 2010 to 2015, using two-tier immunoreactive trypsinogen testing, followed by a sweat test. When sweat test values were >30 mmol/L, the CFTR gene was analyzed. Results Of 96,071 newborns screened, a second sample was requested in 119 cases. A sweat test was performed in 30 newborns, and 9 possible cases were detected (seven confirmed cystic fibrosis and two inconclusive). The most frequently detected CFTR pathogenic variant (5/14 cystic fibrosis alleles, 35.7%) was p.(Phe508del); novel p.(Ala559Pro) and p.(Thr1299Hisfs*29) pathogenic variants were found. Conclusions Cystic fibrosis birth prevalence in southeastern Mexico is 1:13,724 newborns. Immunoreactive trypsinogen blood concentration is influenced by gestational age and by the time of sampling. The spectrum of CFTR gene variants in Yucatan is heterogeneous.

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