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The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
J Hum Genet. 2013 Feb; 58(2):113-5.JH

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.

Authors+Show Affiliations

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

23034536

Citation

Tsurusaki, Yoshinori, et al. "The Diagnostic Utility of Exome Sequencing in Joubert Syndrome and Related Disorders." Journal of Human Genetics, vol. 58, no. 2, 2013, pp. 113-5.
Tsurusaki Y, Kobayashi Y, Hisano M, et al. The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. J Hum Genet. 2013;58(2):113-5.
Tsurusaki, Y., Kobayashi, Y., Hisano, M., Ito, S., Doi, H., Nakashima, M., Saitsu, H., Matsumoto, N., & Miyake, N. (2013). The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. Journal of Human Genetics, 58(2), 113-5. https://doi.org/10.1038/jhg.2012.117
Tsurusaki Y, et al. The Diagnostic Utility of Exome Sequencing in Joubert Syndrome and Related Disorders. J Hum Genet. 2013;58(2):113-5. PubMed PMID: 23034536.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. AU - Tsurusaki,Yoshinori, AU - Kobayashi,Yasuko, AU - Hisano,Masataka, AU - Ito,Shuichi, AU - Doi,Hiroshi, AU - Nakashima,Mitsuko, AU - Saitsu,Hirotomo, AU - Matsumoto,Naomichi, AU - Miyake,Noriko, Y1 - 2012/10/04/ PY - 2012/10/5/entrez PY - 2012/10/5/pubmed PY - 2013/6/12/medline SP - 113 EP - 5 JF - Journal of human genetics JO - J. Hum. Genet. VL - 58 IS - 2 N2 - 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. SN - 1435-232X UR - https://www.unboundmedicine.com/medline/citation/23034536/The_diagnostic_utility_of_exome_sequencing_in_Joubert_syndrome_and_related_disorders_ L2 - http://www.diseaseinfosearch.org/result/3917 DB - PRIME DP - Unbound Medicine ER -