Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications Ruth Bargal, Valerie Cormier-Daire, Ziva Ben-Neriah, Martine Le Merrer,

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Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications Ruth Bargal, Valerie Cormier-Daire, Ziva Ben-Neriah, Martine Le Merrer, Jacob Sosna, Judith Melki, David H. Zangen, Sarah F. Smithson, Zvi Borochowitz, Ruth Belostotsky, Annick Raas-Rothschild The American Journal of Human Genetics Volume 84, Issue 1, Pages 80-84 (January 2009) DOI: 10.1016/j.ajhg.2008.12.004 Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 1 Clinical Picture and Roentgen of the Hands (A and B) Picture of the hands of 2 patients with typical broad, puffy fingers and short, broad nails. (C) Hand radiography of patient A shows irregular widened distal radius and ulna. The metacarpals are short and have a narrow neck with meta-epiphyseal widening and distal pointing. The American Journal of Human Genetics 2009 84, 80-84DOI: (10.1016/j.ajhg.2008.12.004) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 2 Roentgen of the Cervical Spine, Chest, and Computerized Tomography of the Head and Chest of a 16-Year-Old Patient Lateral cervical radiography (A) and chest CT (B) showing heavily calcified larynx and tracheal rings (white arrows). (C) Brain CT of the 16-year-old patient demonstrates choroid plexus calcifications not seen normally at this age (white arrow). (D) Chest radiography demonstrates widened ribs and a heavily calcified distal bronchial tree (white arrow). The American Journal of Human Genetics 2009 84, 80-84DOI: (10.1016/j.ajhg.2008.12.004) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 3 Antero-Posterior Radiography of the Pelvis, Femurs, and Knees of the 16-Year-Old Patient Dense calcifications are projected over the left femoral head pubis and ischium (two arrows). The right acetabulum is flattened and irregular and shows a varus deformity of the femoral neck. The femurs and tibia metaphyses are widened. The American Journal of Human Genetics 2009 84, 80-84DOI: (10.1016/j.ajhg.2008.12.004) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 4 Partial Pedigrees of the Five Arab Muslim Jerusalem Families and Haplotype Analysis Using Three Microsatellite Markers, D1S2675, D1S2768, and D1S2844, in the Critical Region on Chromosome 1q23, Showing a Common Haplotype The microsatellite markers are shown in the upper left panel. An asterisk indicates the three patients studied by SNP analysis. The American Journal of Human Genetics 2009 84, 80-84DOI: (10.1016/j.ajhg.2008.12.004) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 5 RT-PCR of the DDR2 c.DNA and Partial Alignment of the Human DDR2 Tyrosine Kinase Domain with Sequences from Four Different Species (A) RT-PCR of the DDR2 c.DNA (fragment E). Panel 1: Heterozygous parent for IVS17+1g > a (Lymphoblastoid line). Panels 2 and 3: Normal control (lymphoblastoid line and fibroblasts, respectively). Sequencing of band c showed skipping of exon 17, band b showed partial skipping of exon 17, and band a represents the normal allele. (B) Partial alignment of the human DDR2 tyrosine kinase domain with sequences from four different species. The mutated residues T713C, I726R, and R752C, highlighted and indicated by arrows, are found in SMED patients and are localized in the active site of the DDR2 tyrosine kinase domain. The American Journal of Human Genetics 2009 84, 80-84DOI: (10.1016/j.ajhg.2008.12.004) Copyright © 2009 The American Society of Human Genetics Terms and Conditions