3849 + 10 kb C --> T splicing mutation in Hispanic CF patients.
Seven patients compound heterozygous for the 3849 + 10kb C --> T mutation in the CFTR gene were found among the 152 patients attending the CHLA CF Clinic. The frequency of this mutation accounts for 2.3 and 3.9% of thetotal and Hispanic CF alleles of CHLA patients. These are significantly higher than the 0.6% of the general CF population. The average age of diagnosis of this group of Hispanics is 3.1 years, which is much younger than that reported for CF patients of other ethnicities with the same mutation. Both pancreatic sufficient and pancreatic insufficient patients were observed. It is concluded that the 3849 + 10kb C --> T mutation is associated with a variable but potentially mild type of CF.
Department of Pathology and Laboratory Medicine, Mail Stop 103, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.
M H
MH
Liang
K K
KK
Wertz
C M
CM
Bowman
E
E
Hsu
B
B
Shapiro
L J
LJ
Wong
D000328:Adult; D000367:Age Factors; D002648:Child; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D010188:Exocrine Pancreatic Insufficiency / Q000209:etiology; D005260:Female; D005808:Genes, Recessive; D005838:Genotype; D006579:Heterozygote; D006630:Hispanic or Latino / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D012326:RNA Splicing / Q000235:genetics*; D044465:White People / Q000235:genetics
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator