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identifier PRJDB74
type bioproject
organism Homo sapiens
title Identification of the causative gene for autosomal recessive spastic paraplegia with optic atrophy and neuropathy
description Objective: To identify the causative gene responsive to autosomal recessive spastic paraplegia (AR-HSP) with optic atrophy and neuropathy. Methods: This study included two patients in a consanguineous family. Two patients underwent neurological examination and DNA analysis. We performed genomewide linkage analysis with SNP array, copy-number variation analysis and whole-exome sequencing. Results: We identified a homozygous nonsense mutation (c.394C>T, p.R132X) in Chromosome 12 open reading flame 65 (C12orf65) gene in two patients. C12orf65 gene mutation was not found in 74 Japanese AR-HSP patients without known HSP gene substitutions. Interpretation: The novel nonsense mutation in C12orf65 could be causative for AR-HSP with optic atrophy and neuropathy, resulting in a premature stop codon. Truncated C12orf65 protein would lead to the mitochondrial protein synthesis defect and respiratory complex enzyme activity reduction. Mitochondrial translation dysfunction could be one of the pathogenic mechanisms for the AR-HSP.
data type Exome
Identification of new casative genes for hereditary spastic paraplegia and analysis of those functions By Ministry of Education, Culture, Sports, Science and Technology in Japan
sra-run  DRR001913
sra-submission  DRA000534
biosample  SAMD00011218
sra-study  DRP000560
sra-sample  DRS001316
sra-experiment  DRX001374
distribution JSONJSON-LD
ddbj_core_bioproject.xml  HTTPS FTP
status public
visibility unrestricted-access
dateCreated 2012-03-16T08:29:48+0000
dateModified 2015-11-17T05:22:04+0000
datePublished 2014-01-30T06:45:49+0000