Screening Young syndrome patients for CFTR mutations.
Young syndrome is characterized by obstructive azoospermia associated with chronic sinobronchial disease of an infectious nature, but normal sweat-gland and pancreatic function as well as normal nasal potential differences. Congenital bilateral absence of the vas deferens (CBAVD) in some patients arises from mutations within the cystic fibrosis (CF) transmembrane regulator (CFTR) gene. Because of some similarities between Young syndrome, CF, and CBAVD, we evaluated 13 patients with Young syndrome, including screening for more than 30 different mutations within the CFTR gene. The mean age of the patients was 43 yr (range, 32 to 50 yr), and all were of northern European extraction. The sweat chloride concentration was normal in all patients (mean = 29 mEq/L; range, 8 to 43 mEq/L). Most had intermittent bronchial and sinus infections, but none was chronically colonized with Staphylococcus aureus or Pseudomonas aeruginosa. The FEV1 was normal or only mildly reduced in most patients (mean = 74%; range, 48 to 100% predicted). Of 26 Young syndrome chromosomes, we identified one with the recognized CF mutation delta F508. The incidence of CFTR mutations (1 in 26) did not differ significantly from the expected carrier frequency in this population. In summary, it is unlikely that the typical Young syndrome patient has a clinical disease associated with CFTR mutation on both alleles.
Friedman
K J
KJ
Department of Hospital Laboratories, University of North Carolina, Chapel Hill 27514, USA.
Teichtahl
H
H
De Kretser
D M
DM
Temple-Smith
P
P
Southwick
G J
GJ
Silverman
L M
LM
Highsmith
W E
WE
Boucher
R C
RC
Knowles
M R
MR
D000328:Adult; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D015994:Incidence; D008297:Male; D009154:Mutation; D009845:Oligospermia / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D015995:Prevalence; D012141:Respiratory Tract Infections / Q000235:genetics*; D013577:Syndrome; D014649:Vas Deferens / Q000002:abnormalities
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator