[R74W;R1070W;D1270N]: A new complex allele responsible for cystic fibrosis

Journal of Cystic Fibrosis

Volumn 9, Issue 6, 2010, Pages 447-449

  de Prada Merino, Ana ^a   Bütschi, Florence Niel ^a   Bouchardy, Isabelle ^b   Beckmann, Jacques S ^a,c   Morris, Michael A ^b   Hafen, Gaudenz M ^a   Fellmann, Florence ^a  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^c UNIVERSITY OF LAUSANNE   (Switzerland)

Author keywords

CFTR; Complex allele; Cystic fibrosis; D1270N; R1070W; R74W

Indexed keywords

CHLORIDE; KREON; PANCREATIC ELASTASE; SODIUM; SODIUM CHLORIDE;

ALLELE; ARTICLE; BIRTH WEIGHT; BODY WEIGHT; CASE REPORT; CHILD; CONSANGUINEOUS MARRIAGE; CYSTIC FIBROSIS; DEHYDRATION; DIARRHEA; FEEDING DISORDER; FEMALE; GASTROENTERITIS; GENE MUTATION; GROWTH CURVE; HAEMOPHILUS INFLUENZAE TYPE A; HETEROZYGOSITY; HUMAN; HYPERCALCEMIA; HYPOCHLOREMIA; HYPONATREMIA; MALNUTRITION; METABOLIC ALKALOSIS; MOROCCO; NATRIURESIS; PANCREAS INSUFFICIENCY; PATIENT COUNSELING; PNEUMONIA; PRESCHOOL CHILD; REHYDRATION; RHINORRHEA; THROAT CULTURE; ULTRASOUND; VOMITING; WEIGHT GAIN;

ALLELES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; HETEROZYGOTE; HUMANS; INFANT; MOROCCO;

EID: 78650181142     PISSN: 15691993     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jcf.2010.08.014     Document Type: Article

References (17)

1. http://www.genet.sickkids.on.ca/cftr.
2. http://www.who.int/genomics/publications/en.
3. http://www.hgvs.org/mutnomen.
4. Strom C.M., Huang D., Buller A., Redman J., Crossey B., Anderson B. Cystic fibrosis screening using the college panel: platform comparison and lessons learned from the first 20,000 samples. Genet Med 2002, 4:319-323.
5. Kiesewetter S., Macek M., Davis C., et al. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet 1993, 5:274-278.
6. Savov A., Angelicheva D., Balassopoulou A., Jordanova A., Noussia-Arvanitakis S., Kalaydjieva L. Double mutant alleles: are they rare?. Hum Mol Genet 1995, 4:1169-1171.
7. Fanen P., Clain J., Labarthe R., et al. Structure function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to CF. FEBS Lett 1999, 452:371-374.
8. Romey M.C., Pallares-Ruiz N., Mange A., et al. A naturally occurring sequence variation that creates a YYI element is associated with increased CF transmembrane conductance regulator expression. J Biol Chem 2000, 275:3561-3567.
9. Claustres M., Guittard C., Bozon D., et al. Spectrum of CFTR mutations in CF and in congenital absence of the vas deferens in France. Hum Mutat 2000, 16:143-156.
10. Farrell P.M., Rosenstein B.J., White T.B., et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr 2008, 153:S4-S14.
11. Mishra A., Greaves R., Smith K., et al. Diagnosis of cystic fibrosis by sweat testing: age-specific reference intervals. J Pediatr 2008, 153:758-763.
12. Desax M.C., Ammann R.A., Hammer J., Schoeni M.H. Nanoduct sweat testing for rapid diagnosis in newborns, infants and children with cystic fibrosis. Eur J Pediatr 2008, 167:299-304. Swiss Paediatric Respiratory Research Group.
13. Casals T., Bassas L., Ruiz-Romero J., et al. Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected. Hum Genet 1995, 95:205-211.
14. Claustres M., Altieri J.P., Guittard C., Templin C., Chevalier-Porst F., Des Georges M. Are p.1148T, p.R74W and p.D1270N CF causing mutations?. BMC Med Genet 2004, 5:19.
15. Brugnon F., Bilan F., Heraud M.C., Grizard G., Janny L., Creveaux I. Outcome of intracytoplasmic sperm injection for a couple in which the man is carrier of CFTR p.[R74W;V201M;D1270N] and p.841R mutations and his spouse a heterozygous carrier of p.F508del mutation of CFTR gene. Fertil Steril 2004, 90:e23-e26.
16. Krasnov K.V., Tzetis M., Cheng J., Guggino W.B., Cutting G.R. Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships. Hum Mutat 2008, 29:1364-1372.
17. Ratbi I., Génin E., Legendre M., et al. Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco. J Cyst Fibros 2008, 7:440-443.