RGD Reference Report - A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome. - Rat Genome Database

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A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome.

Authors: Swerdlow, R H  Wooten, G F 
Citation: Swerdlow RH and Wooten GF, Ann Neurol. 2001 Oct;50(4):537-40.
RGD ID: 13209134
Pubmed: PMID:11601506   (View Abstract at PubMed)

Sex-linked male deafness and dystonia (Mohr-Tranebjaerg syndrome) arises from mutation of the deafness/dystonia peptide (DDP) gene. We describe a novel guanine deletion at nucleotide 108 of the DDP gene in a family with Mohr-Tranebjaerg syndrome, which terminates this 97-amino acid protein at codon 25. Unlike previously reported kindreds, carrier females in this family also manifest dystonias, including torticollis and writer's cramp. A family history of male deafness should alert clinicians to the possibility of DDP mutation in women with focal dystonias.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
TIMM8AHumandeafness-dystonia-optic neuronopathy syndrome  IAGP DNA:deletion:cds:108delG(human)RGD 
Timm8a1Ratdeafness-dystonia-optic neuronopathy syndrome  ISOTIMM8A (Homo sapiens)DNA:deletion:cds:108delG(human)RGD 
Timm8a1Mousedeafness-dystonia-optic neuronopathy syndrome  ISOTIMM8A (Homo sapiens)DNA:deletion:cds:108delG(human)RGD 
TIMM8AHumandystonia  IAGP DNA:deletion:cds:108delG(human)RGD 
Timm8a1Ratdystonia  ISOTIMM8A (Homo sapiens)DNA:deletion:cds:108delG(human)RGD 
Timm8a1Mousedystonia  ISOTIMM8A (Homo sapiens)DNA:deletion:cds:108delG(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