Journal
JOURNAL OF HUMAN GENETICS
Volume 58, Issue 2, Pages 113-115Publisher
SPRINGERNATURE
DOI: 10.1038/jhg.2012.117
Keywords
CEP290; exome sequencing; INPP5E; Joubert syndrome; molecular diagnosis; TMEM67
Categories
Funding
- Ministry of Health, Labor and Welfare
- Japan Science and Technology Agency
- Strategic Research Program for Brain Sciences
- Ministry of Education, Culture, Sports, Science and Technology of Japan
- Japan Society for the Promotion of Science
- Takeda Science Foundation
- Grants-in-Aid for Scientific Research [25461637, 24790893, 23689052] Funding Source: KAKEN
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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 (2013) 58, 113-115; doi:10.1038/jhg.2012.117; published online 4 October 2012
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