Familial neurofibromatosis 1 microdeletions: Cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata

American Journal of Medical Genetics

Volumn 73, Issue 2, 1997, Pages 197-204

  Leppig, Kathleen A ^a   Kaplan, Paige ^c   Viskochil, David ^d   Weaver, Molly ^b   Ortenberg, June ^e   Stephens, Karen ^a,b  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^e MONTREAL CHILDREN S HOSPITAL   (Canada)

Author keywords

Contiguous gene deletion; Neurofibromata; Tumorigenesis

Indexed keywords

CONTIG; NEUROFIBROMIN;

ADOLESCENT; ARTICLE; CASE REPORT; DNA FLANKING REGION; FACE MALFORMATION; FAMILIAL DISEASE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE SEGREGATION; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; NEUROFIBROMATOSIS; PHENOTYPE; PRIORITY JOURNAL; SOMATIC CELL;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 17; FACE; FEMALE; GENE DELETION; GENES, NEUROFIBROMATOSIS 1; HAPLOTYPES; HETEROZYGOTE; HUMANS; HYBRID CELLS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; NEUROFIBROMA; NEUROFIBROMATOSIS 1; PEDIGREE; PHENOTYPE; SKIN;

EID: 0030783781     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(1997)73:2<197::AID-AJMG17>3.0.CO;2-P     Document Type: Article

References (48)

1. Abuelo DN, Meryash DL (1988): Neurofibromatosis with fully expressed Noonan syndrome. Am J Med Genet 29:937-941.
2. Ainsworth PJ, Chakraborty PK, Weksberg R (1997): Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion. Hum Mutat 9:452-457.
3. Ainsworth PJ, Rodenhiser DI (1991): Rapid nonradioactive detection by PCR of pHHH202/RsaI RFLP linked to neurofibromatosis type 1. Am J Hum Genet 49:1098-1099.
4. Allanson JE, Hall JG, Van Allen MI (1985): Noonan phenotype associated with neurofibromatosis. Am J Med Genet 21:457-462.
5. Basu TN, Butmann DH, Fletcher JA, Glover TW, Collins FS, Downward J (1992): Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature 356:713-715.
6. Bollag G, Clapp DW, Shih S, Adler F, Zhang Y, Thompson P, Lange BJ, Freedman M, McCormick F, Jacks T, Shannon K (1996): Loss of NF1 results in activation of the Ras signaling pathway and leads to aberrant growth in haematopoietic cells. Nat Genet 12:144-148.
7. Borochowitz Z, Berant N, Dar H, Berant M (1989): The neurofibromatosis-Noonan syndrome: genetic heterogeneity versus clinical variability. Neurofibromatosis 2:309-314.
8. Buehning L, Curry CJ (1995): Neurofibromatosis-Noonan syndrome. Ped Dermatol 12:267-271.
9. Cha RS, Thilly WG, Zarbl H (1994): N-Nitroso-N-methylureaa-induced rat mammary tumors arise from cells with preexisting oncogenic Hras1 gene mutations. Proc Natl Acad Sci USA 91:3749-3753.
10. Chance PF, Anderson MK, Leppig KA, Lensch MW, Matsunami N, Smithe B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD (1993): DNA deletions associated with hereditary liability to pressure palsies. Cell 72:143-151.
11. Colley A, Donnai D, Evans DGR (1996): Neurofibromatosis/Noonan phenotype: A variable feature of type 1 neurofibromatosis. Clin Genet 49: 59-64.
12. Colman SD, Williams CA, Wallace MR (1995): Benign neurofibromas in type 1 neurofibromatosis (NF1) shows somatic deletions of the NF1 gene. Nat Genet 11:90-92.
13. ras contributes to malignant tumor growth in von Recklinghausen (Type 1) neurofibromatosis. Cell 69:265-273.
14. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Merc S, Bernardi G, Lathrop M, Weissenbach J (1994): The 1993-94 Genethon human genetic linkage map. Nat Genet 7:246-339.
15. Hall JG, Allanson JE (1991): Neurofibromatosis. I. Predicting the relation of gene structure to gene function. Am J Med Genet 38:135.
16. Heim RA, Kam-Morgan LNW, Binnie CG, Corns DD, Cayouette MC, Farber RA, Aylsworth AS, Silverman LM, Luce MC (1995) Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. Hum Mol Genet 4:975-981.
17. Hoffmeyer S, Assum G (1994): An RsaI polymorphism in the transcribed region of the neurofibromatosis (NF1)-gene. Hum Genet 93:481-482.
18. Huson SM, Harper PS, Compston DAS (1988): Von Recklinghasen neurofibromatosis: A clinical and population study in south-east Wales. Brain 111:1355-1381.
19. Jin Z, Houle B, Mikheev AM, Cha RS, Zarbl H (1996): Alerations in H-ras1 promoter conformation during N-Nitroso-N-methylureaa-induced mammary carcinogenesis and pregnancy. Cancer Res 56:4927-4935.
20. Kaplan P, Rosenblatt B (1985): A distinctive facial appearance in neurofibromatosis von Recklinghausen. Am J Med Genet 21:462-470.
21. Kayes LM, Burke W, Riccardi VM, Bennett RL, Ehrlich P, Rubenstein A, Stephens K (1994): Deletions spanning the neurofibromatosis 1 gene: Identification of the phenotype in five patients. Am J Hum Genet 54: 426-436.
22. Kayes LM, Riccardi VM, Burke W, Bennett RL, Stephens K (1992): Large de novo DNA deletion in a patient with sporadic neurofibromatosis, mental retardation and dysmorphism. J Med Genet 29:686-690.
23. Kinzler KW, Vogelstein B (1997): Cancer-susceptibility genes: Gatekeepers and caretakers. Nature 386:761-762.
24. Lazaro C, Gaona A, Xu G, Weiss R, Estivill X (1993): A highly informative Ca/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene. Hum Genet 92:429-430.
25. Leach RJ. Amplimers for CRYB1. 19 Mar 91. Personal communication in: GDB(Human Genome Database [database online]. Baltimore (MD): Johns Hopkins University, 1990-. Updated daily. Available from Internet: URL http://gdbwww.gdb.org/ [cited 5 June 1997; GDB node: USA, http://gdbwww.gdb.org/] Accession ID: CIT: 25472.
26. Ledbetter DH, Rich DC, O'Connell P, Leppert M, Carey JC (1989): Precise localization of NF1 to 17q11.2 by balanced translocation. Am J Hum Genet 44:20-24.
27. Legius E, Marchuk DA, Collins FS, Glover TW (1993): Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nat Genet 3:122-126.
28. Leppig KA, Viskochil D, Neil S, Rubenstein A, Johnson VP, Zhu XL, Brothman AR, Stephens K (1996): The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization. Cygenet Cell Genet 72:95-98.
29. Li Y, O'Connell P, Breidenbach HH, Cawthon R, Stevens J, Xu G, Neil S, Robertson M White R, Viskochil D (1995): Genomic organization of the neurofibromatosis 1 gene. Genomics 25:9-18.
30. Marchuk DA, Tavakkol R, Wallace 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.
31. Miles DK, Freedman MH, Stephens K, Pallavicini M, Sievers EL, Weaver M, Grunberger T, Thompson P, Shannon KM (1996): Patterns of hematopoietic lineage involvement in children with neurofibromatosis type 1 and malignant myeloid disorders. Blood 88:4314-4320.
32. Mulvihill JJ (1984): Malignancy: epidemiologically associated cancers. In Huson SM, Hughes RAC (eds): "The Neurofibromatoses: A Pathogenetic and Clinical Overview." London: Chapman and Hall Medical, pp 305-315.
33. Neitzel H (1986): A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum Genet 73:320-326.
34. Opitz JM, Weaver DD (1985): The neurofibromatosis-Noonan syndrome. Am J Med Genet 21:477-490.
35. Quattrin T, McPherson E, Putnam T (1987): Vertical transmission of the neurofibromatosis/Noonan syndrome. Am J Med Genet 26:645-649.
36. Riccardi VM (1992): "Neurofibromatosis, Phenotype, Natural History, Pathogenesis." Baltimore: The Johns Hopkins University Press.
37. Rodenhiser DI, Ainsworth PJ, Coulter-Mackie MB, Singh SM, Jung JH (1993): A genetic study of neurofibromatosis type 1 (NF1) in southwestern Ontario. II. A PCR based approach to molecular and prenatal diagnosis using linkage. J Med Genet 30:363-368.
38. Sawada S, Florell S, Purandare SM, Ota M, Stephens K, Viskochil D (1996): Identification of NF1 mutations in both alleles of a dermal neurofibroma. Nat Genet 14:110-112.
39. Shannon KM, O'Connell P, Martin GA, Paderanga D, Olson K, Dinndorf P, McCormick F (1994): Loss of the normal NF1 allele from the hone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders. N Engl J Med 330:597-601.
40. Stern HJ, Saal HM, Lee JS, Fain PR, Goldgar DE, Rosenbaum KN, Barker DF (1992): Clinical variability of type 1 neurofilbromatosis: Is there a neurofibromatosis-Noonan syndrome? J Med Genet 29:184-187.
41. Tassabehji M, Strachan T, Sharland M, Colley A, Donnai I, Harris R, Thakker N (1993): Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. Am J Hum Genet 53:90-95.
42. Van Tuinen P, Rich DC, Summers KM, Ledbetter DH (1987): Regional mapping panel for human chromosome 17: Application to neurofibromatosis type 1. Genomics 1:374-381.
43. Viskochil D, Carey JC (1992): Nosological considerations of the neurofibromatoses. J Dermatol 19:873-880.
44. Viskochil D, White R, Cawthon R (1993): The neurofibromatosis type 1 gene. Annu Rev Neurosci 16:183-205.
45. Wu B-L, Austin MA, Schneider GH, Boles RG, Korf BR (1996): Deletion of the entire NF1 gene detected by FISH: four deletion patients associated with severe manifestations. Am J Med Genet 59:528-535.
46. Wu B-L, Schneider GH, Korf BR (1997): Deletion of the entire NF1 gene causing distinct manifestations in a family. Am J Med Genet 69:98-101.
47. Xu G, Nelson L, O'Connell P, White R (1991): An alu polymorphism intragenic to the neurofibromatosis 1 gene (NF1). Nucleic Acids Res 19: 3764.
48. Xu W, Mulligan LM, Ponder MA, Liu L, Smith BA, Mathew CGP, Ponder BAJ (1992): Loss of NF1 alleles in phaeochromocytomas from patients with type 1 neurofibromatosis. Genes Chrom Cancer 4:337-342.