RGD Reference Report - A novel mutation of PAX6 identified in a Chinese twin family with congenital aniridia complicated with nystagmus. - Rat Genome Database

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A novel mutation of PAX6 identified in a Chinese twin family with congenital aniridia complicated with nystagmus.

Authors: Cao, X  Zhou, X M  Gan, R  Jiang, L Q  Lu, L  Wang, Y  Fan, N  Yin, Y  Yan, N H  Yu, W H  Liu, X Y 
Citation: Cao X, etal., Genet Mol Res. 2014 Oct 27;13(4):8679-85. doi: 10.4238/2014.October.27.8.
RGD ID: 12790966
Pubmed: PMID:25366758   (View Abstract at PubMed)
DOI: DOI:10.4238/2014.October.27.8   (Journal Full-text)

Genetic variations within the paired box gene 6 (PAX6) gene are associated with congenital aniridia. To detect the genetic defects in a Chinese twin family with congenital aniridia and nystagmus, exons of PAX6 were amplified by polymerase chain reaction (PCR), sequenced and compared with a reference database. Six members from the family of three generations were included in the study. The twins' father presented with congenital aniridia, nystagmus and cataract at birth, while the twins presented with congenital aniridia and nystagmus. A novel mutation c.888 insA in exon 10 of PAX6 was identified in all affected individuals. This study suggests that the novel mutation c.888 insA is likely responsible for the pathogenesis of the congenital aniridia and nystagmus in this pedigree. To the best of our knowledge, this is the first report of this mutation in PAX6 gene in pedigree with aniridia. Furthermore, no PAX6 gene defect was reported in twins with congenital aniridia.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
aniridia  IAGP 12790966associated with Nystagmus more ...RGD 
aniridia  ISOPAX6 (Homo sapiens)12790966; 12790966associated with Nystagmus more ...RGD 

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