Exclusion of the neurofibromatosis 1 locus in a family with inherited café‐au‐lait spots
- 7 June 1993
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 46 (4) , 472-474
- https://doi.org/10.1002/ajmg.1320460428
Abstract
We have performed linkage analysis is a small family with autosomal dominant inheritance of multiple café‐au‐lait spots (CLS) in order to clarify its relationship to classical von Recklinghausen disease (NF 1). We found that an affected woman had transmitted a different haplotype for markers flanking the NF 1 gene to both of her affected daughters. These results exclude an allelic mutation of the NF 1 gene on chromosome 17 as the cause for inherited café‐au‐lait spots in this family.Keywords
This publication has 12 references indexed in Scilit:
- Neurofibromatosis MimicryArchives of Dermatology, 1991
- Ectopia lentis et pupillae: the genetic aspects and differential diagnosis.Journal of Medical Genetics, 1991
- A highly polymorphic cDNA probe in theNF1geneNucleic Acids Research, 1991
- An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1)Nucleic Acids Research, 1991
- A polymorphic cDNA probe on chromosome 17q11.2 located within the NF1 gene [D17S376]Nucleic Acids Research, 1991
- Ring chromosome 11 and café‐au‐lait spotsAmerican Journal of Medical Genetics, 1988
- A technique for radiolabeling DNA restriction endonuclease fragments to high specific activityAnalytical Biochemistry, 1984
- Cafe-au-lait spots in schoolchildren.Archives of Disease in Childhood, 1982