Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development M.A.

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Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development M.A. Simpson, R. Hsu, L.S. Keir, J. Hao, G. Sivapalan, L.M. Ernst, E.H. Zackai, L.I. Al-Gazali, G. Hulskamp, H.M. Kingston, T.E. Prescott, A. Ion, M.A. Patton, V. Murday, A. George, A.H. Crosby The American Journal of Human Genetics Volume 81, Issue 5, Pages 906-912 (November 2007) DOI: 10.1086/522240 Copyright © 2007 The American Society of Human Genetics Terms and Conditions

Figure 1 a, G banding of the pseudodicentric chromosome 7. b, FISH staining with probes directed against chromosome 7 centromere (pink) and chromosome 7p telomere (blue). The upper panel displays a normal karyotype from the affected child’s father, and the lower panel is from the affected child, with an absence of signal from the chromosome 7pter probe. c, Schematic representation, from contig NT_079592 (GenBank), of the terminal region of chromosome 7p, including the location of the deleted 7pter FISH probe. Marker D7S2563 delimits the deleted region, which contains five potential transcriptional units. The American Journal of Human Genetics 2007 81, 906-912DOI: (10.1086/522240) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

Figure 2 Sequence chromatograms, predicted effects, and locations of the mutations identified in the six additional affected individuals. Mutations are present in affected individuals as homozygotes, apart from two compound heterozygotes (c914+5G→C, c1401-1G→A, designated by a number sign [#], and 1094G→A, c1322-2A→G, designated by an asterisk [*]). Statistical analysis of each of the splice-site variants is displayed above the chromatograms (blue path). Also shown is a schematic representation of multiple-species sequence alignment of the FAM20C protein sequences affected by respective variants (red path). The American Journal of Human Genetics 2007 81, 906-912DOI: (10.1086/522240) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

Figure 3 a, In situ hybridization of the mouse FAM20C orthologue (DMP4) on E15 mouse, with light microscopy and dark field images showing the developing vertebral column with expression on the mineralizing surface of somites (red arrow) and limb girdle (blue arrow). b, Light microscopy and dark field images showing expression of FAM20C (DMP4) in osteoblasts (yellow arrow), odontoblasts (red arrow), and ameloblasts (blue arrow) of the alveolar bone in a P1 mouse. c, PCR analysis of Fam20C (DMP4) mRNA from multiple tissues from a P5 SD rat (1 = spleen, 2 = skeletal muscle, 3 = bone, and 4 = tooth germ) (left). Glyceraldehyde-3-phosphate dehydrogenase (GAPDH) is used as an internal control. Right, With northern-blot analysis, 20 βg of total RNA isolated from P5 rats (1 = spleen, 2 = skeletal muscles, 3 = bones, and 4 = tooth germs), was electrophoresed, blotted, and probed for FAM20C (DMP4). The blot was stripped and reprobed for GAPDH. The American Journal of Human Genetics 2007 81, 906-912DOI: (10.1086/522240) Copyright © 2007 The American Society of Human Genetics Terms and Conditions