Familial Syndromic Esophageal Atresia Maps to 2p23-p24

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Familial Syndromic Esophageal Atresia Maps to 2p23-p24 Jacopo Celli, Ellen van Beusekom, Raoul C.M. Hennekam, M. Esther Gallardo, Dominique F.C.M. Smeets, Santiago Rodríguez de Córdoba, Jeffrey W. Innis, Moshe Frydman, Rainer König, Helen Kingston, John Tolmie, Lutgarde C.P. Govaerts, Hans van Bokhoven, Han G. Brunner The American Journal of Human Genetics Volume 66, Issue 2, Pages 436-444 (February 2000) DOI: 10.1086/302779 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees used in the DNA-marker studies. Segregation of chromosome 2 markers is seen in the three-generation Dutch family with ODED syndrome (family A). The blackened bar indicates the haplotype that segregates with the disease. Affected patients III:5 and III:7 show recombination at markers D2S352 and D2S131, respectively. Pedigrees of the two smaller families with ODED syndrome (families B and C) confirm linkage to the 2p23-p24 region. A recombination at D2S390 in individual II:3 (family C) defines the proximal border of the linkage interval. The American Journal of Human Genetics 2000 66, 436-444DOI: (10.1086/302779) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 2 CA-repeat analysis of the microdeletion in 2p23-p24 in family D with ODED syndrome. In this family, the genotypes in the affected mother and daughter are inconsistent with Mendelian inheritance for the markers between D2S2199 and D2S320. In the affected daughter, these markers show only the father’s allele and not the allele that is present in the mother. The mother is also hemizygous for these markers. Note that marker D2S2267 is either homozygous or hemizygous in individual II:1. The American Journal of Human Genetics 2000 66, 436-444DOI: (10.1086/302779) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 3 FISH characterization of the microdeletion in 2p23-p24 in family D with ODED syndrome. FISH with YAC probe 953G11 from 2p23-p24 shows only a single signal in a patient with ODED syndrome (patient II:1 in family D). The American Journal of Human Genetics 2000 66, 436-444DOI: (10.1086/302779) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 4 Pedigree of family E with nonsyndromic familial EA. Marker D2S149 segregates with the nonsyndromic form of familial EA. A recombination in individual IV-1 excludes markers proximal to D2S144. The American Journal of Human Genetics 2000 66, 436-444DOI: (10.1086/302779) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 5 Human SIX2 partial cDNA sequence. Primers used are in italic lowercase type; start and stop codons are in boldface type; the SIX domain is underlined; and the homeobox domain is underlined twice. The American Journal of Human Genetics 2000 66, 436-444DOI: (10.1086/302779) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 6 Comparison of linkage intervals for families A–C with ODED syndrome, the microdeletion in family D (the diagonally barred area indicates possible reduction of the deleted area; see text), and the cosegregating haplotype in nonsyndromic family E. In family E, the linkage interval continues more distally. Distances (in cM) between each marker and the next are indicated and are computed on the basis of average distances on the Généthon map for chromosome 2 (Dib et al. 1996). The American Journal of Human Genetics 2000 66, 436-444DOI: (10.1086/302779) Copyright © 2000 The American Society of Human Genetics Terms and Conditions