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

[aniridia]

Genetic variations within the paired box gene 6 (PAX 6 ) gene are associated with congenital aniridia . To detect the genetic defects in a Chinese twin family with congenital aniridia and nystagmus , exons of PAX 6 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 PAX 6 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 PAX 6 gene in pedigree with aniridia . Furthermore , no PAX 6 gene defect was reported in twins with congenital aniridia .

Diseases
Validation

Diseases presenting "first report of this mutation" symptom

aniridia

kallmann syndrome

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