TY - JOUR
T1 - Pitfall in the use of genotype analysis as the sole diagnostic criterion for cystic fibrosis
AU - Kercsmar, Carolyn M.
AU - Chmiel, James F.
AU - Drumm, Mitchell L.
AU - Konstan, Michael W.
AU - Ferkol, Thomas W.
PY - 1999/4
Y1 - 1999/4
N2 - In this report, we present an asymptomatic infant, seen for a second opinion, who was given the diagnosis of cystic fibrosis (CF) as a neonate based on the presence of two mutant alleles, ΔF508 and R117H. The diagnosis of CF adversely affected the family's emotional, employment, and financial statuses. Our evaluation included sweat chloride, nasal transepithelial potential difference, and bronchoscopy with bronchoalveolar lavage measurements, all which were consistent with findings expected from an individual without CF. Genotype analysis for the sequence polymorphism in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene revealed the 7 thymidines and 9 thymidines alleles. We conclude that this patient probably expresses enough epithelial cell surface CFTR function such that she has a normal phenotype. Based on our evaluation, she does not meet the current diagnostic criteria for CF. Although genotype analysis can be an useful adjunct, it should not be the sole diagnostic criterion for CF.
AB - In this report, we present an asymptomatic infant, seen for a second opinion, who was given the diagnosis of cystic fibrosis (CF) as a neonate based on the presence of two mutant alleles, ΔF508 and R117H. The diagnosis of CF adversely affected the family's emotional, employment, and financial statuses. Our evaluation included sweat chloride, nasal transepithelial potential difference, and bronchoscopy with bronchoalveolar lavage measurements, all which were consistent with findings expected from an individual without CF. Genotype analysis for the sequence polymorphism in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene revealed the 7 thymidines and 9 thymidines alleles. We conclude that this patient probably expresses enough epithelial cell surface CFTR function such that she has a normal phenotype. Based on our evaluation, she does not meet the current diagnostic criteria for CF. Although genotype analysis can be an useful adjunct, it should not be the sole diagnostic criterion for CF.
KW - CFTR
KW - Genetic testing
KW - Phenotype
UR - http://www.scopus.com/inward/record.url?scp=0345104274&partnerID=8YFLogxK
U2 - 10.1542/peds.103.4.823
DO - 10.1542/peds.103.4.823
M3 - Article
C2 - 10103316
AN - SCOPUS:0345104274
SN - 0031-4005
VL - 103
SP - 823
EP - 826
JO - Pediatrics
JF - Pediatrics
IS - 4 I
ER -