A novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalities.

[aniridia]

Aniridia is a congenital panocular disorder caused by the mutations of the paired box gene -6 (PAX 6 ). To investigate the clinical characterization and the underlying genetic defect in a Chinese family with aniridia and other ocular abnormalities , we recruited the family members who underwent ophthalmic examination . Two patients in this family , the proband and his affected son , both have bilateral aniridia , foveal hypoplasia and nystagmus . Moreover , the proband also had presenile cataracts , but his affected son did not show cataracts at the time of examination . Sequencing PAX 6 revealed that a heterozygous duplication mutation c .95 _105 dup 11 , predicted to generate non-functional truncated protein at position Gly 36 (p .G 36 X ), was found in the affected individuals but not in any of the unaffected family members including the parents of the proband . Haplotype analysis showed that the proband and his affected son shared a common disease-related haplotype , which was arisen from the proband 's unaffected father through crossing-over . In conclusion , we identified a novel de novo duplication mutation of PAX 6 in the aniridia and other ocular abnormalities family . This mutation has occurred de novo on a paternal chromosome by direct duplication , which presumably results from replication slippage or unequal non-sister chromatids exchange during spermatogenesis .

Diseases
Validation

Diseases presenting "duplication mutation" symptom

aniridia

kallmann syndrome

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