Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy Pia Ostergaard, Michael A.

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Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy Pia Ostergaard, Michael A. Simpson, Antonella Mendola, Pradeep Vasudevan, Fiona C. Connell, Andreas van Impel, Anthony T. Moore, Bart L. Loeys, Arash Ghalamkarpour, Alexandros Onoufriadis, Ines Martinez-Corral, Sophie Devery, Jules G. Leroy, Lut van Laer, Amihood Singer, Martin G. Bialer, Meriel McEntagart, Oliver Quarrell, Glen Brice, Richard C. Trembath, Stefan Schulte-Merker, Taija Makinen, Miikka Vikkula, Peter S. Mortimer, Sahar Mansour, Steve Jeffery The American Journal of Human Genetics Volume 90, Issue 2, Pages 356-362 (February 2012) DOI: 10.1016/j.ajhg.2011.12.018 Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 1 Clinical Features of KIF11 Mutation-Positive Patients with MLCRD and CDMMR (A) Facial features of individuals diagnosed with MLCRD. (B) Facial features of individuals diagnosed with CDMMR. The faces in (A) and (B) are characteristic of the syndrome and have upslanting palpebral fissures, a broad nose with a rounded tip, a long philtrum with a thin upper lip, a prominent chin, and prominent ears. (C) A composite color photograph of the left fundus in patient CDMMR05 II-1 shows focal areas of peripheral chorioretinal atrophy. (D) Bilateral, congenital lower-limb primary lymphedema in subjects with MLCRD involves the dorsa of the feet, which show pitting edema, deep interphalangeal creases, small dysplastic nails, and wide-caliber veins. (E) Comparison of lower-limb lymphoscintigraphy (imaging taken 2 hr after injection of radioactive isotope [technetium 99] into the webspaces between the toes) in patient MLCRD01 II-2 and an unaffected control. The patient's lymphoscintigraphy shows no significant main-tract filling and therefore suggests initial lymphatic-vessel dysfunction. The American Journal of Human Genetics 2012 90, 356-362DOI: (10.1016/j.ajhg.2011.12.018) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 2 Location of the Identified Mutations in KIF11 Upper panel: Mutations are indicated with respect to the genomic organization of KIF11. Lower panel: KIF11 domain structure excludes the two identified splice-site mutations. The American Journal of Human Genetics 2012 90, 356-362DOI: (10.1016/j.ajhg.2011.12.018) Copyright © 2012 The American Society of Human Genetics Terms and Conditions