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. 2014 Oct 22;23(7):963–968. doi: 10.1038/ejhg.2014.220

Figure 1.

Figure 1

Sequence analysis of LZTR1 in blood and tumors of mutated patients. Asterisks indicate subjects in the family who carry the variant. (a) The frameshift variant in exon 13 of LZTR1 was detected in the genomic DNA from the proband (arrow) and his affected father. The variant was present in the proband's schwannoma T714, which retained both alleles. (b) The frameshift variant in exon 16 of LZTR1 is present in the proband and her unaffected father and is retained in two schwannomas. (c) A frameshift variant in exon 14, c.1602delA (p.Lys534Asnfs*22), was identified in the proband from family 307 and his unaffected father, but not in the affected brother. The altered LZTR1 allele was retained in two tumors of the brother. Haplotype analysis for chromosome 22 markers in the family clearly indicated that the affected siblings inherited the two different chromosomes 22 from their father.