Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1

Journal of Medical Genetics

Volumn 35, Issue 6, 1998, Pages 468-471

  Rasmussen, Sonja A ^a   Colman, Steven D ^a   Ho, Vu T ^a   Abernathy, Corinne R ^a   Arn, Pamela H ^b   Weiss, Lester ^c   Schwartz, Charles ^d   Saul, Robert A ^d   Wallace, Margaret R ^a  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^b NEMOURS CHILDREN S CLINIC   (United States)

^c HENRY FORD HOSPITAL   (United States)

^d GREENWOOD GENETIC CENTER   (United States)

Author keywords

Deletions; Loss of heterozygosity; Neurofibromatosis type 1; Somatic mosaicism

Indexed keywords

ADULT; ALLELE; ARTICLE; CHROMOSOME MOSAICISM; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE DELETION; GENE LOCUS; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; NEUROFIBROMATOSIS; PRIORITY JOURNAL; SCHOOL CHILD; SOMATIC MUTATION;

EID: 0031799411     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.6.468     Document Type: Article

References (11)

1. Huson SM, Compstpn DAS, Clark P, Harper PS. 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 1989;26:704-11.
2. Li Y, O'Connell P, Breidenbach HH, et al. Genomic organization of the neurofibromatosis 1 gene (NF1). Genomics 1995;25:9-18.
3. Shen MH, Harper PS, Upadhyaya M. Molecular genetics of neurofibromatosis type 1 (NF1). J Med Genet 1996;33:2-17.
4. Heim RA, Kam-Morgan LN, Binnie CG, et al. Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. Hum Mol Genet 1995;4:975-81.
5. Ainsworth PJ, Rodenhiser DI. Rapid nonradioactive detection by PCR of pHHH202/RsaI RFLP linked to neurofibromatosis type 1. Am J Hum Genet 1991;49:1098-9.
6. Fain PR, Goldgar DE, Wallace MR, et al. Refined physical and genetic mapping of the NF1 region on chromosome 17. Am J Hum Genet 1989;45:721-8.
7. Shannon KM, O'Connell P, Martin GA, et al. Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders. N Engl J Med 1994;330:597-601.
8. Hoffmeyer S, Assum G. An RsaI polymorphism in the transcribed region of the neurofibromatosis (NF1)-gene. Hum Genet 1994;93:481-2.
9. Régnier V, Danglot G, Nguyen VC, Bernheim A. A Tsp509I variant in exon 13 of the neurofibromatosis type 1 (NF1) gene allows the identification of both alleles at the mRNA level. Hum Genet 1995;96:131-2.
10. Andersen LB, Tarié SA, Marchuk DA, Legius E, Collins FS. A compound nucleotide repeat in the neurofibromatosis (NF1) gene. Hum Mol Genet 1993;2:1083.
11. Xu GF, Nelson L, O'Connell P, White R. An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1). Nucleic Acids Res 1991;19:3764.