A Gene for Autosomal Recessive Spondylocostal Dysostosis Maps to 19q13

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A Gene for Autosomal Recessive Spondylocostal Dysostosis Maps to 19q13 A Gene for Autosomal Recessive Spondylocostal Dysostosis Maps to 19q13.1-q13.3 Peter D. Turnpenny, Michael P. Bulman, Timothy M. Frayling, Tewfiq K. Abu-Nasra, Christine Garrett, Andrew T. Hattersley, Sian Ellard The American Journal of Human Genetics Volume 65, Issue 1, Pages 175-182 (July 1999) DOI: 10.1086/302464 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree of family 1, with genotypes for 17 DNA markers from chromosome 19q13. A question mark (?) within a haplotype indicates genotypes that were not determined. Regions of homozygosity are indicated by blackened bars. Affected and unaffected individuals are represented by blackened and unblackened symbols, respectively. The uncertainty about the affected status of individual V-8 is indicated by a question mark (?). Double lines indicate consanguineous marriages. The precise relationships of generations I–III are no longer known; the simplest ancestry is therefore shown. The American Journal of Human Genetics 1999 65, 175-182DOI: (10.1086/302464) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Pedigree of family 2, with genotypes for 18 DNA markers from chromosome 19q13. Regions of homozygosity are indicated by blackened bars. Affected and unaffected individuals are represented by blackened and unblackened symbols, respectively. Double lines indicate consanguineous marriages. The American Journal of Human Genetics 1999 65, 175-182DOI: (10.1086/302464) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 3 A, Radiograph of the spine of individual VI-1 (family 1), at age 2.5 years. Extensive malsegmentation of the vertebrae throughout the spinal column is present, with scoliotic curves. There are 11 pairs of ribs and multiple points of fusion. B, Radiograph of the spine of individual V-18 (family 1), at age 31 years. Extensive malsegmentation is present, giving rise to a nonprogressive scoliotic deformity. C, Radiograph of the thoracic spine of individual V-8 (family 1), at age 15 years. Two mild scoliotic curves are present, apparently without a segmentation defect. There are no points of rib fusion. D, Radiograph of the lumbar spine of individual V-8 (family 1), at age 15 years. Segmentation defects appear to affect L4–S1. E, Radiograph of individual V-5 (family 2), in the neonatal period. Vertebral-segmentation defects are most severe in the cervical and thoracic regions. The American Journal of Human Genetics 1999 65, 175-182DOI: (10.1086/302464) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 4 Genetic map and distances of chromosome 19 markers. The location of the SD gene is determined on the basis of the region of homozygosity in families 1 and 2. The American Journal of Human Genetics 1999 65, 175-182DOI: (10.1086/302464) Copyright © 1999 The American Society of Human Genetics Terms and Conditions