NDLI: Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.

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Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Yasuda, Takao Shiina, Masaaki Fukuda, Yoko Miyake, Noriko Tsuji, Shoji Saitsu, Hirotomo Matsumoto, Naomichi Doi, Hiroshi Kuroiwa, Yoshiyuki Nukina, Nobuyuki Sakai, Haruya Ikeda, Shu-ichi Miyatake, Satoko Fukuda, Mitsunori Morita, Hiroshi Tsurusaki, Yoshinori Kato, Rumiko Yoshida, Kunihiro Koyano, Shigeru
Description	Country affiliation: Japan Author Affiliation: Doi H ( Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama, Japan.)
Abstract	Autosomal-recessive cerebellar ataxias (ARCAs) are clinically and genetically heterogeneous disorders associated with diverse neurological and nonneurological features that occur before the age of 20. Currently, mutations in more than 20 genes have been identified, but approximately half of the ARCA patients remain genetically unresolved. In this report, we describe a Japanese family in which two siblings have slow progression of a type of ARCA with psychomotor retardation. Using whole-exome sequencing combined with homozygosity mapping, we identified a homozygous missense mutation in SYT14, encoding synaptotagmin XIV (SYT14). Expression analysis of the mRNA of SYT14 by a TaqMan assay confirmed that SYT14 mRNA was highly expressed in human fetal and adult brain tissue as well as in the mouse brain (especially in the cerebellum). In an in vitro overexpression system, the mutant SYT14 showed intracellular localization different from that of the wild-type. An immunohistochemical analysis clearly showed that SYT14 is specifically localized to Purkinje cells of the cerebellum in humans and mice. Synaptotagmins are associated with exocytosis of secretory vesicles (including synaptic vesicles), indicating that the alteration of the membrane-trafficking machinery by the SYT14 mutation may represent a distinct pathomechanism associated with human neurodegenerative disorders.
ISSN	00029297
e-ISSN	15376605
DOI	10.1016/j.ajhg.2011.07.012
Journal	The American Journal of Human Genetics
Issue Number	2
Volume Number	89
Language	English
Publisher	Cell Press (on behalf of American Society of Human Genetics)
Publisher Date	2011-08-12
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Exons Genetics Genes, Recessive Homozygote Mutation Psychomotor Disorders Spinocerebellar Ataxias Synaptotagmins Age Of Onset Amino Acid Sequence Animals Dna Mutational Analysis Gene Expression Regulation Magnetic Resonance Imaging Mice Molecular Sequence Data Pedigree Complications Purkinje Cells Metabolism Pathology Epidemiology Chemistry Research Support, Non-u.s. Gov't Discipline Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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