Germ-Line Mosaicism in Tuberous Sclerosis: How Common?

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Germ-Line Mosaicism in Tuberous Sclerosis: How Common? Verna M. Rose, Kit-Sing Au, Gretchen Pollom, E. Steve Roach, Heather R. Prashner, Hope Northrup The American Journal of Human Genetics Volume 64, Issue 4, Pages 986-992 (April 1999) DOI: 10.1086/302322 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Haplotype analysis of pedigrees. Paternal haplotypes are boxed, and maternal haplotypes are within ovals. a, HOU-21. Mosaicism in the father was excluded because the two affected siblings have inherited different paternal alleles. The mother gave the same chromosome to all the children, which is consistent with her having germ-line mosaicism. b, HOU-23. On the basis of the haplotype analysis, either parent could have germ-line mosaicism; however, LOH studies indicated that the mother is the parent with mosaicism. c, HOU-28. Either parent could have germ-line mosaicism. d, HOU-33. The father gave the same chromosome 16 to both affected children but not to the unaffected children, indicating that he is the parent with mosaicism. The mother was excluded because she gave opposite haplotypes to the affected children. e, HOU-34. Either parent could have germ-line mosaicism. f, HOU-37. The mother has germ-line mosaicism. The American Journal of Human Genetics 1999 64, 986-992DOI: (10.1086/302322) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Haplotype analysis of pedigrees. Paternal haplotypes are boxed, and maternal haplotypes are within ovals. a, HOU-21. Mosaicism in the father was excluded because the two affected siblings have inherited different paternal alleles. The mother gave the same chromosome to all the children, which is consistent with her having germ-line mosaicism. b, HOU-23. On the basis of the haplotype analysis, either parent could have germ-line mosaicism; however, LOH studies indicated that the mother is the parent with mosaicism. c, HOU-28. Either parent could have germ-line mosaicism. d, HOU-33. The father gave the same chromosome 16 to both affected children but not to the unaffected children, indicating that he is the parent with mosaicism. The mother was excluded because she gave opposite haplotypes to the affected children. e, HOU-34. Either parent could have germ-line mosaicism. f, HOU-37. The mother has germ-line mosaicism. The American Journal of Human Genetics 1999 64, 986-992DOI: (10.1086/302322) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Detection of variant bands (arrows) in affected children. Variant bands were not seen in the parents or the unaffected siblings. HOU-21 (a) had variant bands in exon 8 of TSC1, HOU-23 (b) in exon 24 of TSC2, HOU-28 (c) in exon 33b of TSC2, HOU-33 (d) in exon 22 of TSC2, HOU-34 (e) in exon 13 of TSC2, and HOU-37 (f) in exon 16 of TSC2. The American Journal of Human Genetics 1999 64, 986-992DOI: (10.1086/302322) Copyright © 1999 The American Society of Human Genetics Terms and Conditions