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Title 

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

 

엑솜 시퀀싱에 의한 SEMD-JL의 원인 유전자 KIF22 발굴

Authors 

B J MinNamshin KimT ChungO H KimG NishimuraC Y ChungH R SongH W KimH R LeeJiwoong KimT H KangM E SeoS D YangD H KimS B LeeJ I KimJ S SeoJ Y ChoiD KangD KimW Y ParkT J Cho

Publisher 

Elsevier

Issue Date 

2011

Citation 

American Journal of Human Genetics, vol. 89, no. 6, pp. 760-766

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.

ISSN 

0002-9297

Link 

http://dx.doi.org/10.1016/j.ajhg.2011.10.015

Appears in Collections

1. Journal Articles > Journal Articles

Registered Date

2019-05-02


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