Clinical spectrum in homozygotes and compound heterozygotes inheriting cystic fibrosis mutation 3849 + 10kbC > T: significance for geneticists.
We describe patients inheriting cystic fibrosis (CF) mutation 3849 + 10kb > T as homozygotes or compound heterozygotes. Three unrelated homozygotes for this mutation were all pancreatic-sufficient and sweat test-negative or inconclusive. Among the compound heterozygotes, both pancreatic sufficiency and insufficiency, as well as positive and negative/inconclusive sweat test results are reported, expanding the range of clinical expression associated with inheritance of this mutation. 3849 + 10kbC > T is one of several CF mutations that can result in atypical or variant forms of CF. For geneticists, the diagnosis of variant CF has implications for recurrence risk and prognosis counseling of the families of affected individuals, and possibly for CF carrier screening in the general population.
Division of Human Genetics, Cornell University Medical College, New York, USA.
F
F
Gilbert
Z
Z
Li
I I
II
Arzimanoglou
M
M
Bialer
C
C
Denning
J
J
Gorvoy
J
J
Honorof
C
C
Ores
L
L
Quittell
I
I
Arzimanoglou
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002712:Chlorides / Q000032:analysis; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005541:Forced Expiratory Volume; D005838:Genotype; D006801:Humans; D009154:Mutation; D010186:Pancreatic Function Tests; D010641:Phenotype; D012964:Sodium / Q000032:analysis; D013542:Sweat / Q000737:chemistry
D002712:Chlorides; D012964:Sodium