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

Journal Article · Thu Oct 01 04:00:00 EDT 1992 · American Journal of Human Genetics; (United States)

OSTI ID:5052845

Northrup, H; Rodriguez, E Jr ^[1]; Herman, G E; Lewis, R A ^[2]; Kwiatkowski, D J ^[3]; Roach, E S ^[4]; Dobyns, W B ^[5]; Daiger, S P; Blanton, S H ^[6]

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1. Univ. of Texas Medical School, Houston, TX (United States)
2. Baylor College of Medicine, Houston, TX (United States)
3. Brigham and Womens's Hospital, Boston, MA (United States)
4. Univ. of Texas Southerwestern Medical School, Dallas, TX (United States)
5. Riley Hospital, Indianapolis, IN (United States)
6. Univ. of Texas Health Science Center, Houston, TX (United States)

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. The authors studied 14 multigenerational TSC families (13 previously unreported) with markers for nine loci in the linked region of chromosome 9q32-q34. 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. 38 refs., 6 figs., 4 tabs.

• OSTI ID: 5052845
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 51:4; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
CHROMOSOMES
DISEASES
GENE MUTATIONS
GENETIC MAPPING
HUMAN CHROMOSOME 9
HUMAN CHROMOSOMES
MAPPING
MUTATIONS
NERVOUS SYSTEM DISEASES