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Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

Title
 Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type 
Authors
 Hyun Woo Kim ; Hye Ran Lee ; Hae Ryong Song ; Chin Youb Chung ; Gen Nishimura ; Ok-Hwa Kim ; Taesu Chung ; Namshin Kim ; Byung-Joo Min ; 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 
Issue Date
2011
Journal Title
 American Journal of Human Genetics 
ISSN
 0002-9297 
Citation
 American Journal of Human Genetics, Vol.89(6) : 760~766, 2011 
Abstract
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. Sanger sequencing of KIF22 confirmed that c.443C>T (p.Pro148Ser) cosegregated with the phenotype in the affected individuals in the family; c.442C>T (p.Pro148Leu) or c.446G>A (p.Arg149Gln) was present in four of five simplex individuals, but was absent in unaffected individuals in their family and 505 normal cohorts. KIF22 mRNA was detected in human bone, cartilage, joint capsule, ligament, skin, and primary cultured chondrocytes. In silico analysis of KIF22 protein structure indicates that Pro148 and Arg149 are important in maintaining hydrogen bonds in the ATP binding and motor domains of KIF22. We conclude that these mutations in KIF22 cause lepto-SEMDJL.
URI
http://ir.ymlib.yonsei.ac.kr/handle/22282913/94784
DOI
10.1016/j.ajhg.2011.10.015
Appears in Collections:
1. 연구논문 > 1. College of Medicine > Dept. of Orthopedic Surgery
Yonsei Authors
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