Mutation analysis of the tsc2 gene in an african-american family

A. Kumar, R. S. Kandt, C. Wolpert, A. D. Roses, M. A. Pericak-vance, J. R. Gilbert

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Abstract

Tuberous sclerosis complex is an autosomal dominant disorder with loci on chromosome 9q34 (TSC1) and chromosome 16p13.3 (TSC2). The TSC2 gene has been isolated. To date, only a small number of intragenic deletional and point mutations have been detected, almost exclusively in sporadic (no family history) cases. With the exception of a single parent/offspring pair, there have been no published reports of mutations in extended multigenerational chromosome 16-linked TSC2 families. For our TSC studies we ascertained and sampled a four-generation African-American TSC family that shows a high likelihood for linkage to chromosome 16 (z = 1.53). Using single-strand conformation polymorphism analysis we identified a 4590/4591delC mutation in exon 34. The 4590/4591delC causes a frameshift mutation resulting in the creation of a premature stop codon. In addition, we have detected a 5425del4 polymorphism in the two partially overlapping polyadenylation signals in exon 40 that segregates in the family. The polymorphism has been detected in six of 72 African-American control chromosomes examined, and has not been detected in 80 Caucasian control chromosomes examined.

Original languageEnglish (US)
Pages (from-to)2295-2298
Number of pages4
JournalHuman molecular genetics
Volume4
Issue number12
DOIs
StatePublished - Dec 1 1995

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ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Kumar, A., Kandt, R. S., Wolpert, C., Roses, A. D., Pericak-vance, M. A., & Gilbert, J. R. (1995). Mutation analysis of the tsc2 gene in an african-american family. Human molecular genetics, 4(12), 2295-2298. https://doi.org/10.1093/hmg/4.12.2295