Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

doi:10.1016/0092-8674(87)90534-4

Cell

Volume 49, Issue 5, 5 June 1987, Pages 589-594

https://doi.org/10.1016/0092-8674(87)90534-4 Get rights and content

Abstract

von Recklinghausen neurofibromatosis (VRNF) is one of the most common inherited disorders affecting the human nervous system. VRNF is transmitted as an autosomal dominant defect with high penetrance but variable expressivity. The disorder is characterized clinically by hyperpigmented patches of skin (café au lait macules, axillary freckles) and by multiple tumors of peripheral nerve, spinal nerve roots, and brain (neurofibromas, optic gliomas). These tumors can cause disfigurement, paralysis, blindness, and death. We have determined the chromosomal location of the VRNF gene by genetic linkage analysis using DNA markers. The VRNF gene is genetically linked to the locus encoding nerve growth factor receptor, located on the long arm of chromosome 17 in the region 17q12→17q22. However, crossovers with the VRNF locus suggest that a mutation in the nerve growth factor receptor gene itself is unlikely to be the fundamental defect responsible for the VRNF phenotype.

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Cell

ArticleGenetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

Abstract

Trends Genet.

Curr. Prob. Cancer

The use of cyclosporin A in establishing human EBV-transformed lymphoblastoid cell lines

In Vitro

Construction of a genetic linkage map in man using restriction fragment length polymorphisms

Am. J. Hum. Genet.

DNA polymorphism for the nerve growth factor receptor gene excludes its role in familial dysautonomia

Mol. Biol. and Med.

Penetrance and variability in neurofibromatosis: a genetic study of 60 families

Birth Defects

Gene transfer and molecular cloning of the human NGF receptor

Science

A Clinical, Pathological, and Genetic Study of Multiple Neurofibromas

A discordant sibship analysis between β-NGF and neurofibromatosis

Am. J. Hum. Genet.

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity: addendum

Anal. Biochem.

A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

Nature

Precise localization of the human β globin gene complex on chromosome 11

A polymorphic DNA marker genetically linked to Huntington's disease

Nature

DNA polymorphism and human disease

Ann. Rev. Biochem.

The nerve growth factor receptor gene is at human chromosome region 17q12→17q22, distal to the chromosome 17 breakpoint in acute leukemias

A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7

Nature

Nerve growth factor

Physiol. Rev.

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

Nature

Tentative definitions of neurofibromatosis

Neurofibromatosis Res. Newsletter

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies

Am. J. Hum. Genet.

A computer program for linkage analysis of general human pedigrees

Am. J. Hum. Genet.

Article
Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene