Document Detail


The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
MedLine Citation:
PMID:  23034536     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Joubert syndrome (JS) and related disorders (JSRD) are autosomal recessive and X-linked disorders characterized by hypoplasia of the cerebellar vermis with a characteristic 'molar tooth sign' on brain imaging and accompanying neurological symptoms including episodic hyperpnoea, abnormal eye movements, ataxia and intellectual disability. JSRD are clinically and genetically heterogeneous, and, to date, a total of 17 causative genes are known. We applied whole-exome sequencing (WES) to five JSRD families and found mutations in all: either CEP290, TMEM67 or INPP5E was mutated. Compared with conventional Sanger sequencing, WES appears to be advantageous with regard to speed and cost, supporting its potential utility in molecular diagnosis.Journal of Human Genetics advance online publication, 4 October 2012; doi:10.1038/jhg.2012.117.
Authors:
Yoshinori Tsurusaki; Yasuko Kobayashi; Masataka Hisano; Shuichi Ito; Hiroshi Doi; Mitsuko Nakashima; Hirotomo Saitsu; Naomichi Matsumoto; Noriko Miyake
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-10-04
Journal Detail:
Title:  Journal of human genetics     Volume:  -     ISSN:  1435-232X     ISO Abbreviation:  J. Hum. Genet.     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-10-4     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9808008     Medline TA:  J Hum Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
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