RGD Reference Report - Mutation of the PAX6 gene in patients with autosomal dominant keratitis. - Rat Genome Database

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Mutation of the PAX6 gene in patients with autosomal dominant keratitis.

Authors: Mirzayans, F  Pearce, WG  MacDonald, IM  Walter, MA 
Citation: Mirzayans F, etal., Am J Hum Genet. 1995 Sep;57(3):539-48.
RGD ID: 8551884
Pubmed: PMID:7668281   (View Abstract at PubMed)
PMCID: PMC1801269   (View Article at PubMed Central)

Autosomal dominant keratitis (ADK) is an eye disorder chiefly characterized by corneal opacification and vascularization and by foveal hypoplasia. Aniridia (shown recently to result from mutations in the PAX6 gene) has overlapping clinical findings and a similar pattern of inheritance with ADK. On the basis of these similarities, we used a candidate-gene approach to investigate whether mutations in the PAX6 gene also result in ADK. Significant linkage was found between two polymorphic loci in the PAX6 region and ADK in a family with 15 affected members in four generations (peak LOD score = 4.45; theta = .00 with D11S914), consistent with PAX6 mutations being responsible for ADK. SSCP analysis and direct sequencing revealed a mutation in the PAX6 exon 11 splice-acceptor site. The predicted consequent incorrect splicing results in truncation of the PAX6 proline-serine-threonine activation domain. The SeyNeu mouse results from a mutation in the Pax-6 exon 10 splice-donor site that produces a PAX6 protein truncated from the same point as occurs in our family with ADK. Therefore, the SeyNeu mouse is an excellent animal model of ADK. The finding that mutations in PAX6 underlie ADK, along with a recent report that mutations in PAX6 also underlie Peters anomaly, implicates PAX6 broadly in human anterior segment malformations.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PAX6Humanautosomal dominant keratitis  IAGP DNA:snp:exon:IVS10-2A>T (human)RGD 
Pax6Ratautosomal dominant keratitis  ISOPAX6 (Homo sapiens)DNA:snp:exon:IVS10-2A>T (human)RGD 
Pax6Mouseautosomal dominant keratitis  ISOPAX6 (Homo sapiens)DNA:snp:exon:IVS10-2A>T (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PAX6HumanCorneal neovascularization  IAGP DNA:snp:exon:IVS10-2A>TRGD 
PAX6HumanCorneal opacity  IAGP DNA:snp:exon:IVS10-2A>TRGD 
PAX6HumanHypoplasia of the fovea  IAGP DNA:snp:exon:IVS10-2A>TRGD 
Objects Annotated

Genes (Rattus norvegicus)
Pax6  (paired box 6)

Genes (Mus musculus)
Pax6  (paired box 6)

Genes (Homo sapiens)
PAX6  (paired box 6)


Additional Information