RGD Reference Report - A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. - Rat Genome Database

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A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.

Authors: Demos, Michelle K  van Karnebeek, Clara Dm  Ross, Colin Jd  Adam, Shelin  Shen, Yaoqing  Zhan, Shing Hei  Shyr, Casper  Horvath, Gabriella  Suri, Mohnish  Fryer, Alan  Jones, Steven Jm  Friedman, Jan M  FORGE Canada Consortium,  
Citation: Demos MK, etal., Orphanet J Rare Dis. 2014 Jan 28;9:15. doi: 10.1186/1750-1172-9-15.
RGD ID: 11576280
Pubmed: PMID:24468074   (View Abstract at PubMed)
PMCID: PMC3937150   (View Article at PubMed Central)
DOI: DOI:10.1186/1750-1172-9-15   (Journal Full-text)


BACKGROUND: We undertook genetic analysis of three affected families to identify the cause of dominantly-inherited CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss) syndrome.
METHODS: We used whole-exome sequencing to analyze two families affected with CAPOS syndrome, including the original family reported in 1996, and Sanger sequencing to assess familial segregation of rare variants identified in the probands and in a third, apparently unrelated family with CAPOS syndrome.
RESULTS: We found an identical heterozygous missense mutation, c.2452G¿>¿A (p.(Glu818Lys)), in the Na¿/K¿ ATPase a3(ATP1A3) gene in the proband and his affected sister and mother, but not in either unaffected maternal grandparent, in the first family. The same mutation was also identified in the proband and three other affected members of the second family and in all three affected members of the third family. This mutation was not found in more than 3600 chromosomes from unaffected individuals.
CONCLUSION: Other mutations in ATP1A3 have previously been demonstrated to cause rapid-onset dystonia-parkinsonism (also called dystonia-12) or alternating hemiplegia of childhood. This study shows that an allelic mutation in ATP1A3 produces CAPOS syndrome.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
CAPOS Syndrome  IAGP 11576280DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)RGD 
CAPOS Syndrome  ISOATP1A3 (Homo sapiens)11576280; 11576280DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Areflexia  IAGP 11576280DNA:missense mutation:exon:p.E818K (c.2452G>A)RGD 
Ataxia  IAGP 11576280DNA:missense mutation:exon:p.E818K (c.2452G>A)RGD 
Hearing impairment  IAGP 11576280DNA:missense mutation:exon:p.E818K (c.2452G>A)RGD 
Optic atrophy  IAGP 11576280DNA:missense mutation:exon:p.E818K (c.2452G>A)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Atp1a3  (ATPase Na+/K+ transporting subunit alpha 3)

Genes (Mus musculus)
Atp1a3  (ATPase, Na+/K+ transporting, alpha 3 polypeptide)

Genes (Homo sapiens)
ATP1A3  (ATPase Na+/K+ transporting subunit alpha 3)


Additional Information