Tumor LOH analysis provides reliable linkage information for prenatal genetic testing of sporadic NF1 patients.
The neurofibromatosis type 1 gene has one of the highest mutation rates in humans: about 50% of NF1 patients are de novo cases. Although direct mutation characterization has greatly improved over the past decade, in the context of clinical genetics services worldwide, there is still a significant number of patients for which, while fulfilling NF1 clinical criteria, no constitutive mutation is found at a desired time. This is particularly critical for prenatal genetic testing of sporadic cases. Here we describe the use of loss of heterozygosity information in neurofibromas to obtain linkage information on the affected NF1 haplotype, which may be applied for prenatal testing in sporadic patients. However, proper genetic counseling should be provided regarding the possibility of somatic mosaicism.
Serra
Eduard
E
Centre de Genètica Mèdica i Molecular-IDIBELL, L'Hospitalet de Llobregat, Gran Via s/n, 08907 Barcelona, Spain.
Pros
Eva
E
García
Carles
C
López
Eva
E
Gili
M Lluïsa
ML
Gómez
Carolina
C
Ravella
Anna
A
Capellá
Gabriel
G
Blanco
Ignacio
I
Lázaro
Conxi
C
D004273:DNA, Neoplasm / Q000032:analysis*; D016514:Genes, Neurofibromatosis 1; D005817:Genetic Counseling; D006801:Humans; D019656:Loss of Heterozygosity; D018895:Microsatellite Repeats; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000235:genetics*; D010375:Pedigree
D004273:DNA, Neoplasm