Unknown

Dataset Information

0

A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.

ABSTRACT: A Japanese family with autosomal recessive cerebellar ataxia type 8 (SCAR8, MIM 610743) is described. We identified a novel SYNE1 frameshift deletion (c.6843del, p.Q2282Sfs*3). This family shared similar clinical manifestations characterized by adult-onset, relatively pure cerebellar ataxia with mild eye movement abnormality. Intelligence and bulbar and respiratory functions were unaffected. This study suggests the clinical utility of using panel-based exome sequencing for genetic diagnosis in hereditary ataxias in a cost-efficient manner.

SUBMITTER: Yoshinaga T 

PROVIDER: S-EPMC5656760 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

A novel frameshift mutation of <i>SYNE1</i> in a Japanese family with autosomal recessive cerebellar ataxia type 8.

Yoshinaga Tsuneaki T   Nakamura Katsuya K   Ishikawa Masumi M   Yamaguchi Tomomi T   Takano Kyoko K   Wakui Keiko K   Kosho Tomoki T   Yoshida Kunihiro K   Fukushima Yoshimitsu Y   Sekijima Yoshiki Y  

Human genome variation 20171026

A Japanese family with autosomal recessive cerebellar ataxia type 8 (SCAR8, MIM 610743) is described. We identified a novel <i>SYNE1</i> frameshift deletion (c.6843del, p.Q2282Sfs*3). This family shared similar clinical manifestations characterized by adult-onset, relatively pure cerebellar ataxia with mild eye movement abnormality. Intelligence and bulbar and respiratory functions were unaffected. This study suggests the clinical utility of using panel-based exome sequencing for genetic diagnos  ...[more]

Similar Datasets

Unknown SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment.
| S-EPMC6151335 | biostudies-literature
Unknown A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia.
| S-EPMC2330029 | biostudies-literature
Unknown SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
| S-EPMC6363274 | biostudies-literature
Unknown Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia.
| S-EPMC8282352 | biostudies-literature
Unknown Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
| S-EPMC3567281 | biostudies-literature
Unknown UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia.
| S-EPMC4752235 | biostudies-other
Unknown Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in <i>GBA2</i> gene in a large consanguineous Saudi family.
| S-EPMC7859417 | biostudies-literature
Unknown SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.
| S-EPMC5540751 | biostudies-literature
Unknown Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34.
| S-EPMC1288574 | biostudies-literature
Unknown Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation.
| S-EPMC3995328 | biostudies-literature