Early-Onset Brain Tumor and Lymphoma in MSH2-Deficient Children

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Early-Onset Brain Tumor and Lymphoma in MSH2-Deficient Children Gaëlle Bougeard, Françoise Charbonnier, Alexandre Moerman, Cosette Martin, Marie M. Ruchoux, Nathalie Drouot, Thierry Frébourg The American Journal of Human Genetics Volume 72, Issue 1, Pages 213-216 (January 2003) DOI: 10.1086/345297 Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 1 Partial pedigree of the family. Filled symbols denote affected subjects; open symbols denote asymptomatic subjects; oblique line denote deceased. Numbers beside symbols are subject identifiers. The ages of unaffected individuals are indicated. For affected subjects, the tumor type and the age at diagnosis or of death (in parentheses) are indicated. Ca = cancer; y = years; mo = months. The American Journal of Human Genetics 2003 72, 213-216DOI: (10.1086/345297) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 2 Detection of the MSH2 alterations. A, Heterozygous deletion of MSH2 exons 1–6 in the father (individual III.1) detected by QMPSF. The electropherogram of the father (red) was superposed on that of a control individual (blue). The Y-axis displays fluorescence in arbitrary units, and the X-axis indicates the size in bp. This result was obtained on two independent samples. B, Heterozygous 1-bp deletion within exon 3 detected in the mother (individual III.2). C, Hemizygous 1-bp deletion within exon 3, detected in the brain tumor developed in individual IV.2. In panels B and C, sequences correspond to the noncoding strand. The American Journal of Human Genetics 2003 72, 213-216DOI: (10.1086/345297) Copyright © 2003 The American Society of Human Genetics Terms and Conditions