Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia Céline Huber, Eissa Ali Faqeih, Deborah Bartholdi, Christine Bole-Feysot,

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Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia Céline Huber, Eissa Ali Faqeih, Deborah Bartholdi, Christine Bole-Feysot, Zvi Borochowitz, Denise P. Cavalcanti, Amandine Frigo, Patrick Nitschke, Joelle Roume, Heloísa G. Santos, Stavit A. Shalev, Andrea Superti-Furga, Anne-Lise Delezoide, Martine Le Merrer, Arnold Munnich, Valérie Cormier-Daire The American Journal of Human Genetics Volume 92, Issue 1, Pages 144-149 (January 2013) DOI: 10.1016/j.ajhg.2012.11.015 Copyright © 2013 The American Society of Human Genetics Terms and Conditions

Figure 1 Clinical, Radiological, and Histological Features of OPS Cases (A) Antenatal radiological and histological features in two OPS cases from family 5. Skeleton X-rays (I, II) in case 1 showing hypoplastic vertebral bodies, very short metacarpals, horizontal acetabular roof, and metaphyseal irregularities. Growth plate study at the femoral head in sib 2 (15 WG, III) showing nearly absent columnar organization and reduced hypertrophic zone (HY zone) with small reduced number of hypertrophic chondrocytes compared to wild-type growth plate (15 WG, IV). (B) Clinical and radiological findings in case 1 (family 3) at 4 years (I, II, IV, V, VII) and 2 years (III, VI) showing lower limb valgus deformity (I), extremely short hands (II), short metacarpal with metaphyseal cupping and dysplastic carpal ossification (III, IV), severe epiphyseal delay and metaphyseal cupping around the knee (V), and severe platyspondyly (VI, VII). The American Journal of Human Genetics 2013 92, 144-149DOI: (10.1016/j.ajhg.2012.11.015) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

Figure 2 Localization of INPPL1 Mutations Identified in OPS Individuals The American Journal of Human Genetics 2013 92, 144-149DOI: (10.1016/j.ajhg.2012.11.015) Copyright © 2013 The American Society of Human Genetics Terms and Conditions