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Eric D Boyden, A Belinda Campos-Xavier, Sebastian Kalamajski, Trevor L Cameron, Philippe Suarez, Goranka Tanackovic, Goranka Tanackovich, Generoso Andria, Diana Ballhausen, Michael D Briggs, Claire Hartley, Daniel H Cohn, H Rosemarie Davidson, Christine Hall, Shiro Ikegawa, Pierre-Simon Jouk, Rainer König, André Megarbané, Gen Nishimura, Ralph S Lachman, Geert Mortier, David L Rimoin, R Curtis Rogers, Massimiliano Rossi, Hirotake Sawada, Richard Scott, Sheila Unger, Eugenia Ribeiro Valadares, John F Bateman, Matthew L Warman, Andrea Superti-Furga, Luisa Bonafé
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (lepto-SEMDJL, aka SEMDJL, Hall type), is an autosomal dominant skeletal disorder that, in spite of being relatively common among skeletal dysplasias, has eluded molecular elucidation so far. We used whole-exome sequencing of five unrelated individuals with lepto-SEMDJL to identify mutations in KIF22 as the cause of this skeletal condition. Missense mutations affecting one of two adjacent amino acids in the motor domain of KIF22 were present in 20 familial cases from eight families and in 12 other sporadic cases...
December 9, 2011: American Journal of Human Genetics
Byung-Joo Min, Namshin Kim, Taesu Chung, Ok-Hwa Kim, Gen Nishimura, Chin Youb Chung, Hae Ryong Song, Hyun Woo Kim, Hye Ran Lee, Jiwoong Kim, Tae-Hoon Kang, Myung-Eui Seo, San-Deok Yang, Do-Hwan Kim, Seung-Bok Lee, Jong-Il Kim, Jeong-Sun Seo, Ji-Yeob Choi, Daehee Kang, Dongsup Kim, Woong-Yang Park, Tae-Joon Cho
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL), leptodactylic (lepto-SEMDJL) or Hall type, is an autosomal-dominant skeletal dysplasia manifesting with short stature, joint laxity with dislocation(s), limb malalignment, and spinal deformity. Its causative gene mutation has not yet been discovered. We captured and sequenced the exomes of eight affected individuals in six unrelated kindreds (three individuals in a family and five simplex individuals). Five novel sequence variants in KIF22, which encodes a member of the kinesin-like protein family, were identified in seven individuals...
December 9, 2011: American Journal of Human Genetics
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