Results

RDF/XMLNTriplesTurtleShow queryShare ▶
SubjectPredicateObject
http://purl.uniprot.org/citations/11803487http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11803487http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11803487http://www.w3.org/2000/01/rdf-schema#comment"The Mohr-Tranebjaerg syndrome (MIM 304700) and the Jensen syndrome (MIM 311150) were previously reported as separate X-linked recessive deafness syndromes associated with progressive visual deterioration, dystonia, dementia, and psychiatric abnormalities. In the most extensively studied Norwegian family, the Mohr-Tranebjaerg syndrome was reported to be caused by a one-basepair deletion (151delT) in the deafness/dystonia peptide (DDP) gene at Xq22. This gene has been renamed TIMM8a. We identified a stop mutation (E24X) in the TIMM8a gene segregating with the disease in the original Danish family with the Jensen syndrome, which confirms that the two disorders are allelic conditions. We also report abnormal VEP examinations and neuropathological abnormalities in affected males from the two unrelated families with different mutations. The findings included neuronal cell loss in the optic nerve, retina, striate cortex, basal ganglia, and dorsal roots of the spinal cord. The demonstration of mitochondrial abnormalities in skeletal muscle biopsies in some patients is compatible with the suggestion from recent research that the TIMM8a protein is the human counterpart of an intermembrane mitochondrial transport protein, Tim8p, recently characterized in yeast. The clinical and neuropathological abnormalities associated with mutations in the TIMM8a gene support that this X-linked deafness-dystonia-optic neuropathy syndrome is an example of progressive neurodegeneration due to mutations in a nuclear gene necessary for some, yet unknown mitochondrial transport function. We recommend sequencing the TIMM8a gene, thorough ophthalmological examination, and measuring visual evoked potentials in clinically suspected male patients with either progressive hearing impairment, dystonia, or visual disability in order to establish an early diagnosis and provide appropriate genetic counselling."xsd:string
http://purl.uniprot.org/citations/11803487http://purl.org/dc/terms/identifier"doi:10.1076/opge.22.4.207.2220"xsd:string
http://purl.uniprot.org/citations/11803487http://purl.org/dc/terms/identifier"doi:10.1076/opge.22.4.207.2220"xsd:string
http://purl.uniprot.org/citations/11803487http://purl.uniprot.org/core/author"Van Ghelue M."xsd:string
http://purl.uniprot.org/citations/11803487http://purl.uniprot.org/core/author"Van Ghelue M."xsd:string
http://purl.uniprot.org/citations/11803487http://purl.uniprot.org/core/author"Tranebjaerg L."xsd:string
http://purl.uniprot.org/citations/11803487http://purl.uniprot.org/core/author"Tranebjaerg L."xsd:string
http://purl.uniprot.org/citations/11803487http://purl.uniprot.org/core/author"Jensen P.K."xsd:string
http://purl.uniprot.org/citations/11803487http://purl.uniprot.org/core/author"Jensen P.K."xsd:string
http://purl.uniprot.org/citations/11803487http://purl.uniprot.org/core/author"Vnencak-Jones C.L."xsd:string
http://purl.uniprot.org/citations/11803487http://purl.uniprot.org/core/author"Vnencak-Jones C.L."xsd:string
http://purl.uniprot.org/citations/11803487http://purl.uniprot.org/core/author"Lindal S."xsd:string
http://purl.uniprot.org/citations/11803487http://purl.uniprot.org/core/author"Lindal S."xsd:string
http://purl.uniprot.org/citations/11803487http://purl.uniprot.org/core/author"Warburg M."xsd:string
http://purl.uniprot.org/citations/11803487http://purl.uniprot.org/core/author"Warburg M."xsd:string
http://purl.uniprot.org/citations/11803487http://purl.uniprot.org/core/author"Elgjo K."xsd:string
http://purl.uniprot.org/citations/11803487http://purl.uniprot.org/core/author"Elgjo K."xsd:string
http://purl.uniprot.org/citations/11803487http://purl.uniprot.org/core/author"Fuglsang-Frederiksen A."xsd:string
http://purl.uniprot.org/citations/11803487http://purl.uniprot.org/core/author"Fuglsang-Frederiksen A."xsd:string
http://purl.uniprot.org/citations/11803487http://purl.uniprot.org/core/author"Jakobsen J."xsd:string
http://purl.uniprot.org/citations/11803487http://purl.uniprot.org/core/author"Jakobsen J."xsd:string
http://purl.uniprot.org/citations/11803487http://purl.uniprot.org/core/author"Skullerud K."xsd:string
http://purl.uniprot.org/citations/11803487http://purl.uniprot.org/core/author"Skullerud K."xsd:string
▶