Somatic mosaicism for deletion of the entire NFI gene identified by FISH

Human Genetics

Volumn 99, Issue 2, 1997, Pages 209-213

  Wu, Bai Lin ^a   Boles, Richard G ^b,c   Yaari, Hana ^c   Weremowicz, Stanislawa ^d   Schneider, Gretchen H ^a   Korf, Bruce R ^a,e  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b CHILDREN S HOSPITAL LOS ANGELES   (United States)

^c UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^d BRIGHAM AND WOMEN S HOSPITAL   (United States)

^e HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

NEUROFIBROMIN;

ARTICLE; CAFE AU LAIT SPOT; CASE REPORT; CHROMOSOME ANALYSIS; COSMID; DNA PROBE; FEMALE; GENE DELETION; HUMAN; INFANT; MOSAICISM; NEUROFIBROMA; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL; SKIN FIBROBLAST; SOMATIC CELL GENETICS; YEAST ARTIFICIAL CHROMOSOME;

CELLS, CULTURED; CHROMOSOMES, ARTIFICIAL, YEAST; COSMIDS; FEMALE; GENE DELETION; HEAD AND NECK NEOPLASMS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MOSAICISM; NEUROFIBROMA; NEUROFIBROMIN 1; PROTEINS;

EID: 0031016513     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050341     Document Type: Article

References (20)

1. Ainsworth PJ, Weksberg R, Shuman C (1995) Somatic mosaicism in a case of sporadic neurofibromatosis. Am J Hum Genet [Suppl] 57 : A81
2. Baldini A, Ross M, Nizetic D, Vatcheva R, Lindsay EA, Lehrach H, Siniscalco M (1992) Chromosomal assignment of human YAC clones by fluorescence in situ hybridization: use of singleyeast colony PCR and multiple labeling. Genomics 14 : 181-184
3. Bourn D, Carter SA, Evans DGR, Goodship J, Coakham H, Strachan T (1994) A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals. Am J Hum Genet 55 : 69-93
4. Cawthon RM, Weiss R, Xu G, Viskochil D, Culver M, Stevens J, Robertson M, Dunn D, Gesteland R, O'Connell P, White R (1990) A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutation. Cell 62 : 193-201
5. Colman SD, Rasmussen SA, Ho VT, Abernathy CR, Wallace MR (1996) Somatic mosaicism in a patient with neurofibromatosis type 1. Am J Hum Genet 58 : 484-490
6. Hook EB (1977) Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use. Am J Hum Genet 29 : 94-97
7. Huson SM, Campston DAS, Harper PS (1989) A genetic study of von Recklinghausen neurofibromatosis in southeast Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet 26 : 704-711
8. Kayes LM, Burke W, Riccardi VM, Bennett R, Ehrlich P, Rubenstein A, Stephens K (1994) Deletion spanning the neurofibromatosis I gene: identification and phenotype of five patients. Am J Hum Genet 54 : 424-436
9. Lazaro C, Gaona A, Lynch M, Kruyer H, Ravella A, Estivill X (1995) Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism. Am J Hum Genet 57 : 1044-1049
10. Leppig KA, Viskochil D, Neil S, Rubenstein A, Johnson VP, Zhu XL, Brothman AR, Stephens KG (1996) The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization. Cytogenet Cell Genet 72 : 95-98
11. Li Y, O'Connell P, Breidenbach HH, Cawthon RM, Stevens J, Xu G, Neil S, Robertson M, White R, Viskochil D (1995) Genomic organization of the neurofibromatosis 1 gene. Genomics 25 : 9-18
12. Marchuk DA, Saulino AM, Tavakkol R, Swaroop M, Wallace MR, Andersen LB, Mitchell AL, Gutmann DH, Boguski M, Collins FS (1991) cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics 11 : 931-940
13. Marchuk DA, Tavakkol RM, Wallance MR, Brownstein BH, Taillon-Miller P, Fong C-T, Legius E, Andersen LB, Glover TW, Collins FS (1992) A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene. Genomics 13 : 672-680
14. Upadhyaya M, Shaw DJ, Harper PS (1994) Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene. Hum Mutat 4 : 83-101
15. Viskochil D, Buchberg AM, Xu G, Cawthon RM. Stevens J, Wolef RK, Culver M, Carey JC, Copeland NG, Jenkins NA, White R, O'Connell P (1990) Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 62 : 187-192
16. Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, Fountain JW, Brereton A, Nicholson J, Mitchell AL, Brownstein B, Collins FS (1990) Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 249 : 181-186
17. Wu B-L, Milunsky A, Nelson D, Schmeckpeper B, Porta G, Schlessinger D, Skare J (1993) High-resolution mapping of probes near the X-linked lymphoproliferative disease (XLP) locus. Genomics 17 : 163-170
18. Wu BL, Austin MA, Schneider GH, Boles RG, Korf BR (1995) Deletion of the entire NF1 gene detected by FISH: four deletion patients associated with severe manifestations. Am J Med Genet 59 : 528-535
19. Wu BL, Schneider GH, Korf BR (1996) Familial deletion of the entire NF1 gene associated with distinctive severe manifestations. Am J Med Genet (in press)
20. Zlotogora J (1993) Mutations in von Recklinghausen neurofibromatosis: an hypothesis. Am J Med Genet 46 : 182-184