Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome

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Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome Jürgen Kohlhase, Peter E.M. Taschner, Peter Burfeind, Bastian Pasche, Bill Newman, Christopher Blanck, Martijn H. Breuning, Leo P. ten Kate, Petra Maaswinkel-Mooy, Beate Mitulla, Jörg Seidel, Susan J. Kirkpatrick, Richard M. Pauli, David S. Wargowski, Koen Devriendt, Willem Proesmans, Orazio Gabrielli, Giovanni V. Coppa, Eveline Wesby–van Swaay, Richard C. Trembath, Albert A. Schinzel, William Reardon, Eva Seemanova, Wolfgang Engel The American Journal of Human Genetics Volume 64, Issue 2, Pages 435-445 (February 1999) DOI: 10.1086/302238 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 PCR strategy for mutation analysis of SALL1 exons 1–3. Exons are shown as boxes, introns as lines. Zinc fingers are indicated as vertical bars within the exons. Hatched regions = 5′/3′ UTR. For primers (arrows), see table 1. The American Journal of Human Genetics 1999 64, 435-445DOI: (10.1086/302238) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Electropherograms of the mutations (a, c, e, g, i, m, and o) detected in families 3–11 and the corresponding wild-type (wt) sequences (b, d, f, h, j, n, and p). The 1200-1206del mutation in family 7 (i, k, and l) is easily detectable in the patient (i) but much weaker in his mother's lymphocyte (lc) DNA (k) and barely visible in her fibroblast (fbl) DNA (l). Therefore, a mosaicism for the mutation was suspected in the mother. The American Journal of Human Genetics 1999 64, 435-445DOI: (10.1086/302238) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 3 Segregation of the mutation 1291-1300del in family 8. A 368-bp amplicon was digested with PstI and analyzed on a 5% PAGE gel. The digestion results in wild-type fragments of 212 bp and 156 bp in the unaffected family members 1-1, 1-2, and 2-2, whereas the mutated fragment of 146 bp is visible only in the affected members 2-1 and 3-1. The 212-bp fragments are not shown. The American Journal of Human Genetics 1999 64, 435-445DOI: (10.1086/302238) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 4 Positions of the SALL1 mutations in TBS with respect to the encoded protein. All mutations are truncating and result in the putative proteins, lacking all DZF motifs (oval symbols), that are characteristic of SALL1. The American Journal of Human Genetics 1999 64, 435-445DOI: (10.1086/302238) Copyright © 1999 The American Society of Human Genetics Terms and Conditions