TY - JOUR
T1 - The genoa experience of prenatal diagnosis in NF1
AU - Origone, Paola
AU - Bonioli, Eugenio
AU - Panucci, Elisabetta
AU - Costabel, Simona
AU - Ajmar, Franco
AU - Coviello, Domenico A.
PY - 2000
Y1 - 2000
N2 - Type 1 neurofibromatosis (NF1) is an autosomal dominant disorder with an incidence of about 1 in 3500 live births. Symptoms are highly variable from a few cafe-au-lait spots and axillary freckling to plexiform neurofibromas, optic gliomas, pseudarthrosis, and malignancy. Since disease causing mutations are dispersed throughout the gene, prenatal diagnosis is usually performed in familial cases by linkage analysis and rarely by direct characterization of the mutation. We have characterized 48 families and have performed four prenatal diagnoses. In three cases, the linkage analysis was carried out using informative markers. A direct approach using the protein truncation test (PTT) and sequencing was performed in one case in which a R1947X mutation was identified. The extreme variability of the phenotypic expression of the NF1 gene makes reproductive decisions in NF1 families very difficult, as molecular diagnosis cannot predict clinical expression of the disease. The psychological management of the couple is therefore difficult. In two of the three examined families the reproductive choices were not influenced by the specific manifestations of the disease in that family. Copyright (C) 2000 John Wiley and Sons, Ltd.
AB - Type 1 neurofibromatosis (NF1) is an autosomal dominant disorder with an incidence of about 1 in 3500 live births. Symptoms are highly variable from a few cafe-au-lait spots and axillary freckling to plexiform neurofibromas, optic gliomas, pseudarthrosis, and malignancy. Since disease causing mutations are dispersed throughout the gene, prenatal diagnosis is usually performed in familial cases by linkage analysis and rarely by direct characterization of the mutation. We have characterized 48 families and have performed four prenatal diagnoses. In three cases, the linkage analysis was carried out using informative markers. A direct approach using the protein truncation test (PTT) and sequencing was performed in one case in which a R1947X mutation was identified. The extreme variability of the phenotypic expression of the NF1 gene makes reproductive decisions in NF1 families very difficult, as molecular diagnosis cannot predict clinical expression of the disease. The psychological management of the couple is therefore difficult. In two of the three examined families the reproductive choices were not influenced by the specific manifestations of the disease in that family. Copyright (C) 2000 John Wiley and Sons, Ltd.
KW - Genetic counselling
KW - Molecular analysis
KW - Neurofibromatosis type 1
KW - Prenatal diagnosis
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U2 - 10.1002/1097-0223(200009)20:9<719::AID-PD895>3.0.CO;2-X
DO - 10.1002/1097-0223(200009)20:9<719::AID-PD895>3.0.CO;2-X
M3 - Article
C2 - 11015700
AN - SCOPUS:0033803310
VL - 20
SP - 719
EP - 724
JO - Prenatal Diagnosis
JF - Prenatal Diagnosis
SN - 0197-3851
IS - 9
ER -