Abstract
Neurofibromatosis type 1 (NF1) of von Recklinghausen is a common autosomal dominant disorder, characterized by peripheral neurofibromas, cafe-au-lait spots and Lisch nodules of the iris. The high mutation rate at the NF1 locus results in a wide range of molecular abnormalities. We have scanned 14 different exons from the first part of the NF1 gene using the RNA-single strand conformation polymorphism (RNA-SSCP) method in a series of 40 NF1 patients. Three novel mutations, two nonsense and one missense, and two polymorphisms have been detected in familial cases. Genotype-phenotype correlations have been investigated, but no particular association has been detected. After this screening, the majority of NF1 chromosomes has not yet been characterized, confirming the difficulty in detecting the defect underlying NF1 in most families, even following extensive DNA analysis.
| Original language | English |
|---|---|
| Pages (from-to) | 492-495 |
| Number of pages | 4 |
| Journal | Human Genetics |
| Volume | 97 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Apr 1996 |
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ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP : Identification of three novel mutations and of two new polymorphisms. / Gasparini, Paolo; D'Agruma, Leonardo; Pio De Cillis, Gian; Balestrazzi, Paolo; Mingarelli, Rita; Zelante, Leopolde.
In: Human Genetics, Vol. 97, No. 4, 04.1996, p. 492-495.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP
T2 - Identification of three novel mutations and of two new polymorphisms
AU - Gasparini, Paolo
AU - D'Agruma, Leonardo
AU - Pio De Cillis, Gian
AU - Balestrazzi, Paolo
AU - Mingarelli, Rita
AU - Zelante, Leopolde
PY - 1996/4
Y1 - 1996/4
N2 - Neurofibromatosis type 1 (NF1) of von Recklinghausen is a common autosomal dominant disorder, characterized by peripheral neurofibromas, cafe-au-lait spots and Lisch nodules of the iris. The high mutation rate at the NF1 locus results in a wide range of molecular abnormalities. We have scanned 14 different exons from the first part of the NF1 gene using the RNA-single strand conformation polymorphism (RNA-SSCP) method in a series of 40 NF1 patients. Three novel mutations, two nonsense and one missense, and two polymorphisms have been detected in familial cases. Genotype-phenotype correlations have been investigated, but no particular association has been detected. After this screening, the majority of NF1 chromosomes has not yet been characterized, confirming the difficulty in detecting the defect underlying NF1 in most families, even following extensive DNA analysis.
AB - Neurofibromatosis type 1 (NF1) of von Recklinghausen is a common autosomal dominant disorder, characterized by peripheral neurofibromas, cafe-au-lait spots and Lisch nodules of the iris. The high mutation rate at the NF1 locus results in a wide range of molecular abnormalities. We have scanned 14 different exons from the first part of the NF1 gene using the RNA-single strand conformation polymorphism (RNA-SSCP) method in a series of 40 NF1 patients. Three novel mutations, two nonsense and one missense, and two polymorphisms have been detected in familial cases. Genotype-phenotype correlations have been investigated, but no particular association has been detected. After this screening, the majority of NF1 chromosomes has not yet been characterized, confirming the difficulty in detecting the defect underlying NF1 in most families, even following extensive DNA analysis.
UR - http://www.scopus.com/inward/record.url?scp=0029880743&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0029880743&partnerID=8YFLogxK
U2 - 10.1007/s004390050079
DO - 10.1007/s004390050079
M3 - Article
C2 - 8834249
AN - SCOPUS:0029880743
VL - 97
SP - 492
EP - 495
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 4
ER -