Evidence for genetic heterogeneity in tuberous sclerosis: One locus on chromosome 9 and at least one locus elsewhere

H. Northrup, D. J. Kwiatkowski, E. S. Roach, W. B. Dobyns, R. A. Lewis, G. E. Herman, E. Rodriguez, S. P. Daiger, S. H. Blanton

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Abstract

Linkage of tuberous sclerosis complex (TSC), an autosomal dominant disorder, to markers on chromosome 9 was reported first in 1987. This assignment was confirmed by an international collaborative study that suggested more than one locus may be responsible for the phenotype. We studied 14 multigenerational TSC families (13 previously unreported) with markers for nine loci in the linked region of chromosome 9q32-q34. Our results confirm the previous reports that the genetic locus in one-third to one-half of families maps to chromosome 9. Comparison of clinical findings in the chromosome 9-linked families with those in the chromosome 9-unlinked families reveals only a higher incidence of ungual fibromata in the chromosome 9-linked families.

Original languageEnglish (US)
Pages (from-to)709-720
Number of pages12
JournalAmerican journal of human genetics
Volume51
Issue number4
StatePublished - Jan 1 1992

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Northrup, H., Kwiatkowski, D. J., Roach, E. S., Dobyns, W. B., Lewis, R. A., Herman, G. E., Rodriguez, E., Daiger, S. P., & Blanton, S. H. (1992). Evidence for genetic heterogeneity in tuberous sclerosis: One locus on chromosome 9 and at least one locus elsewhere. American journal of human genetics, 51(4), 709-720.