RGD Reference Report - A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome. - Rat Genome Database

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A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome.

Authors: Ezquerra, Mario  Campdelacreu, Jaume  Muñoz, Esteban  Tolosa, Eduardo  Martí, María J 
Citation: Ezquerra M, etal., Arch Neurol. 2005 Feb;62(2):306-8.
RGD ID: 13209130
Pubmed: PMID:15710860   (View Abstract at PubMed)
DOI: DOI:10.1001/archneur.62.2.306   (Journal Full-text)


BACKGROUND: X-linked dystonia-deafness syndrome (Mohr-Tranebjaerg syndrome) is a rare neurodegenerative disease characterized by hearing loss and dystonia. So far, 7 mutations in the coding region of the DDP1 gene have been described. They consist of frameshift, nonsense, missense mutations or deletions.
OBJECTIVE: To investigate the presence of mutations in the DDP1 gene in a family with dystonia-deafness syndrome.
DESIGN: Seven members belonging to 2 generations of a family with 2 affected subjects underwent genetic analysis. Mutational screening in the DDP1 gene was made through DNA direct sequencing.
RESULTS: We found an intronic mutation in the DDP1 gene. It consists of an A-to-C substitution in the position -23 in reference to the first nucleotide of exon 2 (IVS1-23A>C). The mutation was present in 2 affected men and their respective unaffected mothers, whereas it was absent in the healthy men from this family and in 90 healthy controls.
CONCLUSIONS: Intronic mutations in the DDP1 gene can also cause X-linked dystonia-deafness syndrome. In our case, the effect of the mutation could be due to a splicing alteration.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
TIMM8AHumandeafness-dystonia-optic neuronopathy syndrome  IAGP DNA:mutation:intron:IVS1-23A>C(human)RGD 
Timm8a1Ratdeafness-dystonia-optic neuronopathy syndrome  ISOTIMM8A (Homo sapiens)DNA:mutation:intron:IVS1-23A>C(human)RGD 
Timm8a1Mousedeafness-dystonia-optic neuronopathy syndrome  ISOTIMM8A (Homo sapiens)DNA:mutation:intron:IVS1-23A>C(human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
TIMM8AHumanDystonia  IAGP associated with Mohr-Tranebjaerg Syndrome and DNA:mutation:intron:IVS1-23A>C(human)RGD 
TIMM8AHumanHearing impairment  IAGP associated with Mohr-Tranebjaerg Syndrome and DNA:mutation:intron:IVS1-23A>C(human)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Timm8a1  (translocase of inner mitochondrial membrane 8A1)

Genes (Mus musculus)
Timm8a1  (translocase of inner mitochondrial membrane 8A1)

Genes (Homo sapiens)
TIMM8A  (translocase of inner mitochondrial membrane 8A)


Additional Information