title: The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
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.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Tsurusaki
authors.forename: Yasuko
authors.initials: Y
authors.lastname: Kobayashi
authors.forename: Masataka
authors.initials: M
authors.lastname: Hisano
authors.forename: Shuichi
authors.initials: S
authors.lastname: Ito
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Doi
authors.forename: Mitsuko
authors.initials: M
authors.lastname: Nakashima
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Saitsu
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
mesh_terms: D000015:Abnormalities, Multiple; D002526:Cerebellar Diseases / Q000175:diagnosis* / Q000235:genetics; D002531:Cerebellum / Q000002:abnormalities; D059472:Exome; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D012160:Retina / Q000002:abnormalities; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA