The diagnostic utility of exome sequencing in Joubert syndrome and related disorders View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-02

AUTHORS

Yoshinori Tsurusaki, Yasuko Kobayashi, Masataka Hisano, Shuichi Ito, Hiroshi Doi, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto, Noriko Miyake

ABSTRACT

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. More... »

PAGES

113

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/jhg.2012.117

DOI

http://dx.doi.org/10.1038/jhg.2012.117

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1010120560

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/23034536


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