Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome Hana Abouzeid, Gaëlle Boisset,

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Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome Hana Abouzeid, Gaëlle Boisset, Tatiana Favez, Mohamed Youssef, Iman Marzouk, Nihal Shakankiry, Nader Bayoumi, Patrick Descombes, Céline Agosti, Francis L. Munier, Daniel F. Schorderet The American Journal of Human Genetics Volume 88, Issue 1, Pages 92-98 (January 2011) DOI: 10.1016/j.ajhg.2010.12.002 Copyright © 2011 The American Society of Human Genetics Terms and Conditions

Figure 1 Clinical and X-Ray Evaluation of the Patients (A) Image of the orbit of patient V.2. Note the short palpebral fissure, broad lateral eyebrows, and sparse eyelashes. (B) Transpalpebral ultrasonography (12 MHz) in the same child, showing the absence of eye or cystic remnants. (C) Hands of the same patient, with proximal placement of thumb, and F5 radial clinodactyly. (D) X-ray images of the hands, highlighting proximal placement of the thumb, F45 osseous syndactyly, F5 radial clinodactyly, and fusion of the capitate and hamate carpal bones. (E) Feet of the same child, showing an absent ray with sandal gap and pes planum. (F) X-rays of the feet showing, in addition, bilateral partial fusion of both the middle and the medial cuneiform bones. The American Journal of Human Genetics 2011 88, 92-98DOI: (10.1016/j.ajhg.2010.12.002) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

Figure 2 Pedigree and Mutation Analysis (A) Pedigree showing consanguinity. (B) Electropherogram of part of SMOC1 exon 3 showing normal (1), heterozygous (2), and homozygous (3) c.378+1G>T mutation. The American Journal of Human Genetics 2011 88, 92-98DOI: (10.1016/j.ajhg.2010.12.002) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

Figure 3 Expression of smoc1 in Zebrafish (A–D) Whole-mount in situ hybridization experiments showing early expression of smoc1 in the brain (arrow) and in the anterior retina (arrowhead) at 10 ss and 18 ss, respectively. (E and F) smoc1 is localized in the ventral retina, on both sides of the choroid fissure at 24 hr (E), and in the pharyngeal arches at 48 hpf (F). (A, C, E, and F) Top and left represent dorsal and frontal parts of the animal. (B) and (D) are top views. Magnification: 200×. The American Journal of Human Genetics 2011 88, 92-98DOI: (10.1016/j.ajhg.2010.12.002) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

Figure 4 smoc1 Morpholino-Treated Embryos (A and C) smoc1 morpholino-injected embryos at 2 and 5 dpf, respectively. (B and D) Control morpholino-injected embryo at 2 dpf and wild-type embryo at 5 dpf. (B) RT-PCR (+ indicates with reverse transcriptase; - indicates without reverse transcriptase) on mRNA of noninjected embryos (-), embryos injected with smoc1 morpholino (MO), or those injected with control morpholino (MO-Ct) at 1 dpf. smoc1 knockdown revealed microphthalmia with defects in the ventral retina associated with abnormalities in brain development. Control for RNA extraction and amplification was performed with actin (PCR primers: 5′-GGGAG TGATG GTTGG CATGG-3′ and 5′-AGGAA GGAAG GCTGG AAGAG-3′). The American Journal of Human Genetics 2011 88, 92-98DOI: (10.1016/j.ajhg.2010.12.002) Copyright © 2011 The American Society of Human Genetics Terms and Conditions