Figure 2.

Loss of the wild-type hSNF5/INI1 allele in tumors. The results for the male child in pedigree 3 who had ATTR (II.6) and for the patient in pedigree 4 who had bifocal tumors (II.1) are depicted. The normal sequences (N) are shown at the top; the constitutional sequences (C) that demonstrate heterozygosity between wild-type and mutated alleles are shown below them. a, Case II.6 from pedigree 3. The sequence of the ATTR DNA (T) shows the mutated 591delG allele with complete disappearance of the wild-type allele. b, Case II.1 from pedigree 4. DNA from the two successive tumors (T1 [renal MRT] and T2 [central PNET]) demonstrates the presence of the 601T mutated allele and the loss of the wild-type 601C allele. Therefore, in these three tumors, no functional allele of hSNF5/INI1 was retained.