RGD Reference Report - Mutations in TITF-1 are associated with benign hereditary chorea. - Rat Genome Database

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Mutations in TITF-1 are associated with benign hereditary chorea.

Authors: Breedveld, Guido J  van Dongen, Jeroen W F  Danesino, Cesare  Guala, Andrea  Percy, Alan K  Dure, Leon S  Harper, Peter  Lazarou, Lazarus P  van der Linde, Herma  Joosse, Marijke  Grüters, Annette  MacDonald, Marcy E  de Vries, Bert B A  Arts, Willem Frans M  Oostra, Ben A  Krude, Heiko  Heutink, Peter 
Citation: Breedveld GJ, etal., Hum Mol Genet. 2002 Apr 15;11(8):971-9.
RGD ID: 12914773
Pubmed: PMID:11971878   (View Abstract at PubMed)

Benign hereditary chorea (BHC) (MIM 118700) is an autosomal dominant movement disorder. The early onset of symptoms (usually before the age of 5 years) and the observation that in some BHC families the symptoms tend to decrease in adulthood suggests that the disorder results from a developmental disturbance of the brain. In contrast to Huntington disease (MIM 143100), BHC is non-progressive and patients have normal or slightly below normal intelligence. There is considerable inter- and intrafamilial variability, including dysarthria, axial dystonia and gait disturbances. Previously, we identified a locus for BHC on chromosome 14 and subsequently identified additional independent families linked to the same locus. Recombination analysis of all chromosome 14-linked families resulted initially in a reduction of the critical interval for the BHC gene to 8.4 cM between markers D14S49 and D14S278. More detailed analysis of the critical region in a small BHC family revealed a de novo deletion of 1.2 Mb harboring the TITF-1 gene, a homeodomain-containing transcription factor essential for the organogenesis of the lung, thyroid and the basal ganglia. Here we report evidence that mutations in TITF-1 are associated with BHC.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
NKX2-1HumanBenign Familial Chorea  IAGP DNA:missense mutations:exon:p.W238L (713G>T), p.R243S (727C>A) (human)RGD 
Nkx2-1RatBenign Familial Chorea  ISONKX2-1 (Homo sapiens)DNA:missense mutations:exon:p.W238L (713G>T), p.R243S (727C>A) (human)RGD 
Nkx2-1MouseBenign Familial Chorea  ISONKX2-1 (Homo sapiens)DNA:missense mutations:exon:p.W238L (713G>T), p.R243S (727C>A) (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Nkx2-1  (NK2 homeobox 1)

Genes (Mus musculus)
Nkx2-1  (NK2 homeobox 1)

Genes (Homo sapiens)
NKX2-1  (NK2 homeobox 1)


Additional Information