3849 + 10 kb C → T splicing mutation in hispanic CF patients

Molecular Genetics and Metabolism

Volumn 64, Issue 3, 1998, Pages 213-216

  Liang, Min Hui ^a   Wertz, Karin K ^a   Bowman, C Michael ^a   Hsu, Evelyn ^a   Shapiro, Bertrand ^b   Wong, Lee Jun C ^a,c  

^a CHILDREN S HOSPITAL LOS ANGELES   (United States)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^c GEORGETOWN UNIVERSITY   (United States)

Author keywords

3849 + 10kb C T mutation; Cystic fibrosis; Hispanic CF; Phenotype genotype correlation

Indexed keywords

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASE MISPAIRING; CHILD; CLINICAL ARTICLE; CYSTIC FIBROSIS; ETHNIC GROUP; FEMALE; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HUMAN; INFANT; MALE; NUCLEIC ACID BASE SUBSTITUTION; PANCREAS INSUFFICIENCY; PHENOTYPE; PRIORITY JOURNAL;

EID: 0031657818     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1998.2710     Document Type: Article

References (18)

1. Tsui, L, C, Cystic fibrosis mutation data base, http:/www.genet.sickkids.on.ca , 1997.
2. Tsui L C. The cystic fibrosis transmembrane conductance regulator gene. Am J Respir Crit Care Med. 151:1995;S47-S53.
3. Chillon M, Casals T, Gimenez J, Dolores Ramos M, Palacio A, Morral N, Estivill X, Nunes V. Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes. Hum Genet. 93:1994;447-451.
4. Grebe T A, Seltzer W K, DeMarchi J, Silva D K, Doane W W, Gozal D, Richter S F, Bowman C M, Norman R A, Rhodes S N, Hernried L S, Murphy S, Harwood I R, Accurso F J, Jain K D. Genetic analysis of Hispanic individuals with cystic fibrosis. Am J Hum Genet. 54: 1994;443-446.
5. Macek M Jr, Mackova A, Hamosh A, Hilman B C, Selden R F, Lucotte G, Friedman K J, Knowles M R, Rosenstein B J, Cutting G R. Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%. Am J Hum Genet. 60:1997;1122-1127.
6. Stern R C. The diagnosis of cystic fibrosis. New Engl J Med. 336:1997;487-491.
7. Arzimanoglou I, Tuchman A, Li Z, Gilbert F. Cystic fibrosis carrier screening in Hispanics. Am J Hum Genet. 56:1995;544-547.
8. Hum Mutat. 4:1994;167-177.
9. Augarten A, Kerem B-S, Yahav Y, Noiman S, Rivlin Y, Tal A, Blau H, Ben-Tur L, Szeinberg A, Kerem E, Gazit E. Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C → T mutation. Lancet. 342:1993;25-26.
10. Gilbert F, Li Z, Arzimanoglou I, Bialer M, Denning C, Gorvoy J, Honorof J, Ores C, Quittell L, Rossoff L, Valverde K. Clinical spectrum in homozygotes and compound hsterozygotes inheriting cystic fibrosis mutation 3849 + 10kb C → T: Significance for geneticists. Am J Med Genet. 58:1995;356-359.
11. Stern R C, Doershuk C F, Drumm M L. 3849 + 10kb C → T mutation and disease severity in cystic fibrosis. Lancet. 346:1995;274-276.
12. Highsmith W E, Burch L H, Zhou Z, Olsen J C, Boat T E, Spock A, Gorvoy J D, Quittell L, Friedman K J, Silverman L M, Boucher R C, Knowles M R. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N Engl J Med. 331:1994;974-980.
13. Dreyfus D H, Bethel R, Gelfand E W. Cystic fibrosis 3849 + 10kb C > T mutation associated with severe pulmonary disease and male fertility. Am J Respir Crit Care Med. 153:1996;858-860.
14. Vazquez C, Antinolo G, Casals T, Dapena J, Elorz J, Seculi J L, Sirvent J, Cabanas R, Soler C, Estivill X. Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: A pancreatic sufficiency/insufficiency mutation with variable clinical presentation. J Med Genet. 33:1996;820-822.
15. De Braekeleer M, Daigneault J, Aubin G, Simard F, Allard C, Fujiwara M T, Morgan K. Phenotypic heterogeneity in CF sibs compound heterozygous for the G85E and 621 + 1 G > T mutations. Clin Genet. 47:1995;110-111.
16. Hamill P VV, Drizd T A, Johnson C L, Reed R B, Roche A F, Moore W M. Physical growth: National center for health statistics percentiles. Am J Clin Nutr. 32:1979;607-629.
17. National Center for Health Statistics, Anthropometric reference data and prevalence of overweight, United States 1976-1980, Hyattsville, MD, Department of Health and Human Services, Public Health Services, 1987.
18. National Center for Health Statisitcs, Weight by height and age for adults 18-74 years: United States, 1971-1974.